FSHD1
MCID: FCS012
MIFTS: 61

Facioscapulohumeral Muscular Dystrophy 1 (FSHD1)

Categories: Genetic diseases, Muscle diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Facioscapulohumeral Muscular Dystrophy 1

MalaCards integrated aliases for Facioscapulohumeral Muscular Dystrophy 1:

Name: Facioscapulohumeral Muscular Dystrophy 1 56 12 73 13
Facioscapulohumeral Muscular Dystrophy 56 12 74 24 52 25 58 73 36 15
Muscular Dystrophy, Facioscapulohumeral 74 52 25 43 71
Landouzy-Dejerine Muscular Dystrophy 56 12 74 52 73
Fshd 56 52 25 58 73
Facioscapulohumeral Muscular Dystrophy 1a 52 29 71
Fshd1a 56 52 73
Fshd1 56 12 73
Muscular Dystrophy, Facioscapulohumeral, Type 1a 56 52
Facioscapulohumeral Muscular Dystrophy Type 1a 12 73
Fsh Muscular Dystrophy 24 25
Muscular Dystrophy, Facioscapulohumeral, Type 1a; Fshd1a 56
Facioscapulohumeral Type Progressive Muscular Dystrophy 25
Facioscapulohumeral Muscular Dystrophy; Fshd; Fmd 56
Dystrophy, Muscular, Facioscapulohumeral, Type 1 39
Muscular Dystrophy, Facioscapulohumeral, Type 1 56
Facioscapulohumeral Muscular Dystrophy Type 1 12
Dystrophy, Muscular, Facioscapulohumeral 39
Facioscapuloperoneal Muscular Dystrophy 25
Muscular Dystrophy Facioscapulohumeral 54
Muscular Dystrophy, Landouzy-Dejerine 12
Landouzy Dejerine Muscular Dystrophy 12
Facio-Scapulo-Humeral Dystrophy 25
Facioscapulohumeral Dystrophy 58
Facioscapulohumeral Myopathy 58
Facioscapulohumeral Atrophy 25
Landouzy-Dejerine Myopathy 58
Fsh Dystrophy 58
Fshmd1a 52
Fmd 73

Characteristics:

Orphanet epidemiological data:

58
facioscapulohumeral dystrophy
Inheritance: Autosomal dominant; Prevalence: 1-9/100000 (Europe); Age of onset: Adolescent,Adult,Childhood,Infancy; Age of death: normal life expectancy;

OMIM:

56
Inheritance:
autosomal dominant

Miscellaneous:
slowly progressive
onset in childhood or adolescence
incidence 1 in 20,000


HPO:

31
facioscapulohumeral muscular dystrophy 1:
Inheritance autosomal dominant inheritance
Onset and clinical course slow progression childhood onset


GeneReviews:

24
Penetrance In one study, penetrance of fshd was found to vary by age and gender; it was 83% by age 30 years, but significantly greater for males (95%) than for females (69%) [zatz et al 1998]. this finding was confirmed by tonini et al [2004a]. the sex difference in penetrance is unexplained [zatz et al 1998]....

Classifications:

Orphanet: 58  
Rare neurological diseases


Summaries for Facioscapulohumeral Muscular Dystrophy 1

Genetics Home Reference : 25 Facioscapulohumeral muscular dystrophy is a disorder characterized by muscle weakness and wasting (atrophy). This condition gets its name from the muscles that are affected most often: those of the face (facio-), around the shoulder blades (scapulo-), and in the upper arms (humeral). The signs and symptoms of facioscapulohumeral muscular dystrophy usually appear in adolescence. However, the onset and severity of the condition varies widely. Milder cases may not become noticeable until later in life, whereas rare severe cases become apparent in infancy or early childhood. Weakness involving the facial muscles or shoulders is usually the first symptom of this condition. Facial muscle weakness often makes it difficult to drink from a straw, whistle, or turn up the corners of the mouth when smiling. Weakness in muscles around the eyes can prevent the eyes from closing fully while a person is asleep, which can lead to dry eyes and other eye problems. For reasons that are unclear, weakness may be more severe in one side of the face than the other. Weak shoulder muscles tend to make the shoulder blades (scapulae) protrude from the back, a common sign known as scapular winging. Weakness in muscles of the shoulders and upper arms can make it difficult to raise the arms over the head or throw a ball. The muscle weakness associated with facioscapulohumeral muscular dystrophy worsens slowly over decades and may spread to other parts of the body. Weakness in muscles of the lower legs can lead to a condition called foot drop, which affects walking and increases the risk of falls. Muscular weakness in the hips and pelvis can make it difficult to climb stairs or walk long distances. Additionally, affected individuals may have an exaggerated curvature of the lower back (lordosis) due to weak abdominal muscles. About 20 percent of affected individuals eventually require the use of a wheelchair. Additional signs and symptoms of facioscapulohumeral muscular dystrophy can include mild high-tone hearing loss and abnormalities involving the light-sensitive tissue at the back of the eye (the retina). These signs are often not noticeable and may be discovered only during medical testing. Rarely, facioscapulohumeral muscular dystrophy affects the heart (cardiac) muscle or muscles needed for breathing. Researchers have described two types of facioscapulohumeral muscular dystrophy: type 1 (FSHD1) and type 2 (FSHD2). The two types have the same signs and symptoms and are distinguished by their genetic cause.

MalaCards based summary : Facioscapulohumeral Muscular Dystrophy 1, also known as facioscapulohumeral muscular dystrophy, is related to muscular dystrophy, limb-girdle, autosomal recessive 1 and polymyositis. An important gene associated with Facioscapulohumeral Muscular Dystrophy 1 is FSHMD1A (Facioscapulohumeral Muscular Dystrophy 1A), and among its related pathways/superpathways are MicroRNAs in cancer and Cell Differentiation - Index. The drugs Prednisone and Hormone Antagonists have been mentioned in the context of this disorder. Affiliated tissues include eye, heart and skeletal muscle, and related phenotypes are hyperlordosis and emg abnormality

NIH Rare Diseases : 52 Facioscapulohumeral muscular dystrophy is a disorder characterized by muscle weakness and wasting (atrophy). This condition gets its name from the areas of the body that are affected most often: muscles in the face (facio-), around the shoulder blades (scapulo-), and in the upper arms (humeral). The signs and symptoms of facioscapulohumeral muscular dystrophy usually appear in adolescence. However, the onset and severity of the condition varies widely. Facioscapulohumeral muscular dystrophy results from a deletion of genetic material from a region of DNA known as D4Z4. This region is located near one end of chromosome 4 . It is inherited in an autosomal dominant pattern.

OMIM : 56 Facioscapulohumeral muscular dystrophy is the third most common hereditary disease of muscle after Duchenne (DMD; 310200) and myotonic (160900) dystrophy. It is a highly variable disorder with weakness appearing from infancy to late life but typically in the second decade. In general, the disease initially involves the face and the scapulae followed by the foot dorsiflexors and the hip girdles. Typical features are striking asymmetry of muscle involvement from side to side and sparing of bulbar extraocular and respiratory muscles (Tawil et al., 1998). Richards et al. (2012) provided a detailed review of FSHD. See also FSHD2 (158901), which is phenotypically indistinguishable from FSHD1 but not associated with contraction of the D4Z4 microsatellite repeat. Evidence suggests, however, that epigenetic changes in this region are associated with both FSHD1 and FSHD2 (Zeng et al., 2009). (158900)

KEGG : 36 Facioscapulohumeral muscular dystrophy (FSHD) is a usually autosomal dominant inherited form of muscular dystrophy. At disease onset, typically in the second decade of life, FSHD is characterized by initially restricted weakness of shoulder and facial muscles. With progression, the lower extremities, both distal and proximal, become involved. FSHD is caused by a reduction in the copy number of the D4Z4 macrosatellite repeat. However, the reduction of D4Z4 copy number is not sufficient by itself to cause FSHD. A number of epigenetic events appear to affect the severity of the disease, its rate of progression, and the distribution of muscle weakness.

UniProtKB/Swiss-Prot : 73 Facioscapulohumeral muscular dystrophy 1: A degenerative muscle disease characterized by slowly progressive weakness of the muscles of the face, upper-arm, and shoulder girdle. The onset of symptoms usually occurs in the first or second decade of life. Affected individuals usually present with impairment of upper extremity elevation. This tends to be followed by facial weakness, primarily involving the orbicularis oris and orbicularis oculi muscles.

Wikipedia : 74 Facioscapulohumeral muscular dystrophy (FSHMD, FSHD or FSH)-originally named Landouzy-Dejerine-is a... more...

GeneReviews: NBK1443

Related Diseases for Facioscapulohumeral Muscular Dystrophy 1

Diseases in the Facioscapulohumeral Muscular Dystrophy 1 family:

Facioscapulohumeral Muscular Dystrophy 2

Diseases related to Facioscapulohumeral Muscular Dystrophy 1 via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 280)
# Related Disease Score Top Affiliating Genes
1 muscular dystrophy, limb-girdle, autosomal recessive 1 31.4 MIR199B MIR155 MIR154 MIR146B MIR132
2 polymyositis 31.4 MIR222 MIR221 MIR214 MIR21 MIR199B MIR155
3 muscular dystrophy, duchenne type 31.2 MIR379 MIR376C MIR369 MIR34A MIR335 MIR29A
4 arteries, anomalies of 31.2 MIR34A MIR222 MIR221 MIR21 MIR155 MIR146B
5 inclusion body myositis 31.0 MIR34A MIR222 MIR221 MIR214 MIR21 MIR155
6 leukemia, acute lymphoblastic 30.8 MIR335 MIR222 MIR221 MIR21 MIR199B MIR155
7 dermatomyositis 30.2 MIR99B MIR379 MIR376C MIR369 MIR34A MIR335
8 fibromuscular dysplasia 12.4
9 frontometaphyseal dysplasia 12.0
10 facioscapulohumeral muscular dystrophy 2 11.8
11 otopalatodigital syndrome, type i 11.4
12 frontometaphyseal dysplasia 1 11.4
13 otopalatodigital syndrome, type ii 11.3
14 melnick-needles syndrome 11.3
15 coronary artery dissection, spontaneous 11.2
16 frontometaphyseal dysplasia 2 11.2
17 mouth disease 11.1
18 neuromuscular disease 10.7
19 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 10.7
20 sensorineural hearing loss 10.6
21 ovarian serous carcinoma 10.6 MIR29A MIR214 MIR21
22 retinal vascular disease 10.6
23 muscular atrophy 10.6
24 mature b-cell neoplasm 10.6 MIR222 MIR214 MIR155
25 autoimmune disease of musculoskeletal system 10.6 MIR34A MIR221 MIR21 MIR155
26 bone resorption disease 10.6 MIR335 MIR222 MIR214
27 thyroid gland papillary carcinoma 10.6 MIR222 MIR221 MIR146B
28 immune system disease 10.6 MIR34A MIR221 MIR21 MIR155
29 glioma susceptibility 1 10.6 MIR34A MIR222 MIR221 MIR21
30 thyroid gland disease 10.6 MIR222 MIR221 MIR21 MIR154 MIR146B
31 bladder disease 10.6 MIR34A MIR221 MIR21 MIR146B
32 central nervous system cancer 10.6 MIR34A MIR222 MIR214 MIR21 MIR155
33 pancreatic ductal adenocarcinoma 10.6 MIR222 MIR221 MIR21 MIR155
34 endocrine organ benign neoplasm 10.6 MIR335 MIR221 MIR21
35 glucose metabolism disease 10.6 MIR29A MIR222 MIR21 MIR155 MIR146B
36 connective tissue cancer 10.6 MIR369 MIR335 MIR222 MIR214 MIR21
37 overnutrition 10.6 MIR34A MIR29A MIR222 MIR21 MIR155
38 diffuse large b-cell lymphoma 10.6 MIR222 MIR221 MIR21 MIR155
39 rectum cancer 10.6 MIR29A MIR214 MIR21
40 leukocyte disease 10.6 MIR34A MIR222 MIR214 MIR21 MIR155 MIR146B
41 glioma 10.6 MIR34A MIR222 MIR221 MIR21 MIR146B
42 cervix disease 10.6 MIR34A MIR29A MIR214 MIR21 MIR132
43 pancreas disease 10.6 MIR34A MIR221 MIR214 MIR21 MIR155 MIR146B
44 colonic disease 10.6 MIR34A MIR221 MIR214 MIR21 MIR155 MIR146B
45 bone marrow cancer 10.6 MIR34A MIR21 MIR155
46 respiratory failure 10.6
47 myotonic dystrophy 10.6
48 bone inflammation disease 10.6 MIR34A MIR21 MIR155
49 breast disease 10.6 MIR34A MIR335 MIR222 MIR221 MIR21 MIR155
50 uterine anomalies 10.6 MIR34A MIR29A MIR221 MIR214 MIR21 MIR132

Graphical network of the top 20 diseases related to Facioscapulohumeral Muscular Dystrophy 1:



Diseases related to Facioscapulohumeral Muscular Dystrophy 1

Symptoms & Phenotypes for Facioscapulohumeral Muscular Dystrophy 1

Human phenotypes related to Facioscapulohumeral Muscular Dystrophy 1:

58 31 (show all 30)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 hyperlordosis 58 31 hallmark (90%) Very frequent (99-80%) HP:0003307
2 emg abnormality 58 31 hallmark (90%) Very frequent (99-80%) HP:0003457
3 skeletal muscle atrophy 58 31 hallmark (90%) Very frequent (99-80%) HP:0003202
4 mask-like facies 58 31 hallmark (90%) Very frequent (99-80%) HP:0000298
5 elevated serum creatine kinase 31 hallmark (90%) HP:0003236
6 sensorineural hearing impairment 58 31 frequent (33%) Frequent (79-30%) HP:0000407
7 palpebral edema 58 31 frequent (33%) Frequent (79-30%) HP:0100540
8 abnormal eyelash morphology 31 frequent (33%) HP:0000499
9 abnormal retinal vascular morphology 31 frequent (33%) HP:0008046
10 dysphagia 31 occasional (7.5%) HP:0002015
11 abnormality of cardiovascular system morphology 31 occasional (7.5%) HP:0030680
12 intellectual disability 31 HP:0001249
13 seizures 31 HP:0001250
14 facial palsy 31 HP:0010628
15 elevated serum creatine phosphokinase 58 Very frequent (99-80%)
16 abdominal wall muscle weakness 31 HP:0009023
17 malformation of the heart and great vessels 58 Occasional (29-5%)
18 scapular winging 31 HP:0003691
19 abnormality of the eyelashes 58 Frequent (79-30%)
20 abnormality of the retinal vasculature 58 Frequent (79-30%)
21 retinal telangiectasia 31 HP:0007763
22 external ophthalmoplegia 31 HP:0000544
23 calf muscle hypertrophy 31 HP:0008981
24 restrictive deficit on pulmonary function testing 31 HP:0002111
25 shoulder girdle muscle weakness 31 HP:0003547
26 tongue atrophy 31 HP:0012473
27 exudative retinal detachment 31 HP:0012231
28 shoulder girdle muscle atrophy 31 HP:0003724
29 beevor's sign 31 HP:0030664
30 scapulohumeral muscular dystrophy 31 HP:0008970

Symptoms via clinical synopsis from OMIM:

56
Chest Ribs Sternum Clavicles And Scapulae:
scapular winging

Head And Neck Eyes:
exudative retinal detachment
retinal vasculopathy
peripheral retinal telangiectasia, capillary closure, leakage, and microaneurysm formation
macular exudates and hemorrhages
external ophthalmoplegia (uncommon)

Laboratory Abnormalities:
increased serum creatine kinase

Head And Neck Face:
facial muscle weakness and atrophy

Abdomen Gastrointestinal:
dysphagia (less common)

Head And Neck Mouth:
tongue atrophy

Head And Neck Ears:
sensorineural hearing loss

Neurologic Central Nervous System:
seizures (less common)
mental retardation (variable expression)

Respiratory Lung:
restrictive pulmonary dysfunction

Muscle Soft Tissue:
shoulder girdle muscle weakness and atrophy, progressive
facial muscle weakness and atrophy, progressive
upper arm and pelvic muscle weakness and atrophy (later onset)
abdominal wall muscle weakness (later onset)
foot extensor muscle weakness (later onset)
more

Clinical features from OMIM:

158900

Drugs & Therapeutics for Facioscapulohumeral Muscular Dystrophy 1

Drugs for Facioscapulohumeral Muscular Dystrophy 1 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 42)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Prednisone Approved, Vet_approved Phase 3 53-03-2 5865
2 Hormone Antagonists Phase 3
3 Antineoplastic Agents, Hormonal Phase 3
4 Hormones Phase 3
5 Anti-Inflammatory Agents Phase 3
6 glucocorticoids Phase 3
7
Creatine Approved, Investigational, Nutraceutical Phase 2 57-00-1 586
8 4-des-dimethylaminotetracycline Phase 2
9
Methyltestosterone Approved Phase 1 58-18-4 6010
10
Testosterone Approved, Experimental, Investigational Phase 1 58-22-0, 481-30-1 6013 10204
11
Testosterone undecanoate Approved, Investigational Phase 1 5949-44-0
12
Testosterone enanthate Approved Phase 1 315-37-7 9416
13 Anabolic Agents Phase 1
14 Testosterone 17 beta-cypionate Phase 1
15 Androgens Phase 1
16
Tocopherol Approved, Investigational 1406-66-2, 54-28-4 14986
17
Selenium Approved, Investigational, Vet_approved 7782-49-2
18
Oxandrolone Approved, Investigational 53-39-4 5878
19
Vitamin E Approved, Nutraceutical, Vet_approved 59-02-9 14985
20
Vitamin C Approved, Nutraceutical 50-81-7 5785 54670067
21 Tocotrienol Investigational 6829-55-6
22 Vitamins
23 Trace Elements
24 Micronutrients
25 Tocopherols
26 Nutrients
27 Tocotrienols
28 Protective Agents
29 Whey Protein
30 Omega 3 Fatty Acid
31 Cola
32 Antioxidants
33 Respiratory System Agents
34 Neurotransmitter Agents
35 Tocolytic Agents
36 Anti-Asthmatic Agents
37 Adrenergic Agonists
38 Autonomic Agents
39 Bronchodilator Agents
40 Albuterol
41 Adrenergic beta-Agonists
42 Adrenergic Agents

Interventional clinical trials:

(show all 46)
# Name Status NCT ID Phase Drugs
1 Phase III Randomized, Double-Blind Study of Prednisone for Duchenne Muscular Dystrophy Completed NCT00004646 Phase 3 prednisone
2 An Open-Label, Intrapatient Dose-Escalation Study to Evaluate the Safety, Tolerability, Immunogenicity, and Biological Activity of ATYR1940 in Patients With Early Onset and Other Pediatric Onset Facioscapulohumeral Muscular Dystrophy Completed NCT02603562 Phase 1, Phase 2
3 An Open-Label Extension Study to Evaluate the Long-Term Safety, Tolerability, Biological Activity, and Systemic Exposure of ATYR1940 in Adult Patients With Fascioscapulohumeral Muscular Dystrophy (FSHD) Completed NCT02531217 Phase 1, Phase 2
4 An Open-Label, Intrapatient Dose Escalation Study to Evaluate the Safety, Tolerability, Immunogenicity, and Biological Activity of ATYR1940 in Patients With Limb Girdle and Facioscapulohumeral Muscular Dystrophies Completed NCT02579239 Phase 1, Phase 2
5 A Placebo-Controlled, Randomized, Multiple Ascending Dose Study to Evaluate the Safety, Tolerability, Pharmacokinetics (PK), and Biological Activity of ATYR1940 in Adult Patients With Molecularly Defined Genetic Muscular Dystrophies Completed NCT02239224 Phase 1, Phase 2
6 An Open-Label Extension Study to Evaluate the Long-Term Safety, Tolerability, and Biological Activity of ATYR1940 in Patients With Limb Girdle and Facioscapulohumeral Muscular Dystrophy Completed NCT02836418 Phase 1, Phase 2 ATYR1940
7 Study Evaluating MYO-029 in Adult Muscular Dystrophy Completed NCT00104078 Phase 1, Phase 2 MYO-029
8 An Open-Label Pilot Study of Losmapimod to Evaluate the Safety, Tolerability, and Changes in Biomarker and Clinical Outcome Assessments in Subjects With Facioscapulohumeral Muscular Dystrophy 1 (FSHD1) Recruiting NCT04004000 Phase 2 Losmapimod
9 Effect of Creatine Monohydrate on Functional Muscle Strength and Muscle Mass in Children With FSHD: a Multi-centre, Randomised, Double-blind Placebo-controlled Crossover Trial Recruiting NCT02948244 Phase 2
10 A Phase 2, Randomized, Double-Blind, Placebo-Controlled, 24-Week, Parallel-Group Study of the Efficacy and Safety of Losmapimod in Treating Subjects With Facioscapulohumeral Muscular Dystrophy (FSHD) Recruiting NCT04003974 Phase 2 Losmapimod;Placebo oral tablet
11 An Open-Label Extension Study to Evaluate the Long-Term Effects of ACE-083 in Patients With Facioscapulohumeral Muscular Dystrophy (FSHD) Previously Enrolled in Study A083-02 and in Patients With Charcot-Marie Tooth (CMT) Disease Types 1 and X Previously Enrolled in Study A083-03 Enrolling by invitation NCT03943290 Phase 2 ACE-083
12 A Phase 2 Randomized, Double-Blind, Placebo-Controlled Study of ACE-083 in Patients With Facioscapulohumeral Muscular Dystrophy Terminated NCT02927080 Phase 2 ACE-083;ACE-083 or placebo
13 Intramuscular Transplantation of Autologous Muscle Derived Stem Cell(MDSC) and Adipose Derived Mesenchymal Stem Cells (AD-MSC) in Patients With Facioscapulohumeral Dystrophy (FSHD), Phase I Clinical Trial Unknown status NCT02208713 Phase 1
14 Study of Testosterone and rHGH in FSHD (STARFISH): A Proof-of-Concept Study Recruiting NCT03123913 Phase 1 Testosterone Enanthate;Somatropin
15 Clinical, Genetic and Epigenetic Characterization of Patients With FSHD Type 1 and FSHD Type 2 Unknown status NCT01970735
16 Neurological and Psychiatric Comorbidities Patients With FSHD 1 and 2 Unknown status NCT02032979
17 Effects of Antioxidants Supplementation on Muscular Function of Patients Affected by Facioscapulohumeral Dystrophy (FSHD) Unknown status NCT01596803
18 Muscle Oxygenation Modification During Effort in 4 Groups of Neuromuscular Diseases Compared to Healthy Controls, and Mitochondrial Function and Phenotype Assessment Unknown status NCT02789059
19 Rasch-analysis of Clinical Severity in FSHD Completed NCT02766985
20 Disease Progression in Facioscapulohumeral Muscular Dystrophy - 1 Year MRI Follow-up Completed NCT02159612
21 Bone Health in Facioscapulohumeral Muscular Dystrophy: A Cross-sectional Study Completed NCT02413190
22 Facioscapulohumeral Dystrophy in Children: a Prospective, Observational Study on the Natural History, Predictors and Clinical Impact (iFocus) Completed NCT02625662
23 A Multicenter Collaborative Study on the Clinical Features, Expression Profiling, and Quality of Life of Infantile Onset Facioscapulohumeral Muscular Dystrophy Completed NCT01437345
24 Exercise and Myopathies. Physical Training Introduction in Lifestyle of Facioscapulohumeral Dystrophy Patients: Functional, Tissue and Quality of Life Benefits. Completed NCT01116570
25 Electrostimulation of Shoulder Girdle and Quadriceps Muscles in Facioscapulohumeral Muscular Dystrophy Patients Completed NCT00821548
26 Randomized Study of Albuterol in Patients With Facioscapulohumeral Muscular Dystrophy Completed NCT00004685 albuterol
27 Prospective Study for 24-months of Physical Training Introduced in Lifestyle of Patients With Facioscapulohumeral Dystrophy : Tolerance, Sustainability and Efficiency of Unsupervised Training Program. Completed NCT01689480
28 High Intensity Interval Training in Patients With Facioscapulohumeral Muscular Dystrophy Completed NCT02159963
29 Study of Morphology and Functional Magnetic Resonance Imaging (MRI) Muscle Patients With Muscular Dystrophy Type FSHD Benefiting a Physical Training Introduced. Completed NCT01990976
30 Myotonic Dystrophy:Muscle Wasting and Altered Metabolism Completed NCT00004769
31 Acceptance and Commitment Therapy for Muscle Disease Completed NCT02810028
32 The Effect of Protein Supplementation Doing Regular Exercise in Patients With Facioscapulohumeral Muscular Dystrophy - a Blinded RCT Study Completed NCT01618331
33 Clinical Trials of Albuterol and Oxandrolone in FSH Dystrophy Completed NCT00027391 Albuterol;Oxandrolone
34 Studio Monocentrico in Doppio Cieco Randomizzato Dell'Effetto di Una Miscela di Flavonoidi ed Acidi Grassi Naturali in Pazienti Affetti da Distrofia Muscolare Completed NCT03317171
35 The UK Facioscapulohumeral Muscular Dystrophy Patient Registry Recruiting NCT04001582
36 National Registry of Myotonic Dystrophy and Facioscapulohumeral Muscular Dystrophy Patients and Family Members Recruiting NCT00082108
37 Clinical Trial Readiness to Solve Barriers to Drug Development in FSHD Recruiting NCT03458832
38 A Multi-Site Tissue Repository Providing Annotated Biospecimens for Approved Investigator-Directed Biomedical Research Initiatives Recruiting NCT01931644
39 Evaluation of a Method to Support Unstable Shoulders by Means of a Textile Scapula Orthosis Recruiting NCT04154098
40 Family Studies in Neuromuscular Disorders Recruiting NCT01459302
41 Muscle Inflammation and Fat Infiltration in Patients Affected by FSHD Active, not recruiting NCT02541292
42 Magnetic Resonance Imaging and Spectroscopy Biomarkers for Facioscapulohumeral Muscular Dystrophy Active, not recruiting NCT01671865
43 Course and Follow up of Patients Affected by Facioscapulohumeral Dystrophy Active, not recruiting NCT02622438
44 Clinical Trial Readiness Network FSHD France: Prospective 18 Months MRI Study Not yet recruiting NCT04038138
45 The Effect of an Oral Beta-2 Agonist on Respiratory Muscle Strength in SCI Suspended NCT02508311 Oral Albuterol Extended Release;Placebo
46 Effects of NMES on Muscle Function of Patients With FSHD: a Double-blind Randomized Controlled Clinical Trial Terminated NCT02861911

Search NIH Clinical Center for Facioscapulohumeral Muscular Dystrophy 1

Cochrane evidence based reviews: muscular dystrophy, facioscapulohumeral

Genetic Tests for Facioscapulohumeral Muscular Dystrophy 1

Genetic tests related to Facioscapulohumeral Muscular Dystrophy 1:

# Genetic test Affiliating Genes
1 Facioscapulohumeral Muscular Dystrophy 1a 29 FRG1

Anatomical Context for Facioscapulohumeral Muscular Dystrophy 1

MalaCards organs/tissues related to Facioscapulohumeral Muscular Dystrophy 1:

40
Eye, Heart, Skeletal Muscle, Testes, Bone, Retina, Thyroid

Publications for Facioscapulohumeral Muscular Dystrophy 1

Articles related to Facioscapulohumeral Muscular Dystrophy 1:

(show top 50) (show all 980)
# Title Authors PMID Year
1
The FSHD2 gene SMCHD1 is a modifier of disease severity in families affected by FSHD1. 61 24 56 6
24075187 2013
2
Digenic inheritance of an SMCHD1 mutation and an FSHD-permissive D4Z4 allele causes facioscapulohumeral muscular dystrophy type 2. 61 24 6
23143600 2012
3
A unifying genetic model for facioscapulohumeral muscular dystrophy. 61 24 56
20724583 2010
4
DUX4, a candidate gene of facioscapulohumeral muscular dystrophy, encodes a transcriptional activator of PITX1. 61 24 56
17984056 2007
5
Specific sequence variations within the 4q35 region are associated with facioscapulohumeral muscular dystrophy. 61 24 56
17924332 2007
6
Mechanism and timing of mitotic rearrangements in the subtelomeric D4Z4 repeat involved in facioscapulohumeral muscular dystrophy. 61 24 56
15154112 2004
7
Somatic mosaicism in FSHD often goes undetected. 61 24 56
15174019 2004
8
Hypomethylation of D4Z4 in 4q-linked and non-4q-linked facioscapulohumeral muscular dystrophy. 61 24 56
14634647 2003
9
Possible phenotypic dosage effect in patients compound heterozygous for FSHD-sized 4q35 alleles. 61 24 56
14557558 2003
10
Atypical phenotypes in patients with facioscapulohumeral muscular dystrophy 4q35 deletion. 61 24 56
14568813 2003
11
D4F104S1 deletion in facioscapulohumeral muscular dystrophy: phenotype, size, and detection. 61 24 56
12874395 2003
12
Facioscapulohumeral muscular dystrophy is uniquely associated with one of the two variants of the 4q subtelomere. 61 24 56
12355084 2002
13
Genomic analysis of human chromosome 10q and 4q telomeres suggests a common origin. 61 24 56
11829491 2002
14
De novo facioscapulohumeral muscular dystrophy: frequent somatic mosaicism, sex-dependent phenotype, and the role of mitotic transchromosomal repeat interaction between chromosomes 4 and 10. 61 24 56
10631134 2000
15
The facioscapulohumeral muscular dystrophy (FSHD1) gene affects males more severely and more frequently than females. 61 24 56
9605290 1998
16
Facioscapulohumeral dystrophy: a distinct regional myopathy with a novel molecular pathogenesis. FSH Consortium. 61 24 56
9506542 1998
17
Evidence for anticipation and association of deletion size with severity in facioscapulohumeral muscular dystrophy. The FSH-DY Group. 61 24 56
8651646 1996
18
High proportion of new mutations and possible anticipation in Brazilian facioscapulohumeral muscular dystrophy families. 61 24 56
7825608 1995
19
Analysis of the tandem repeat locus D4Z4 associated with facioscapulohumeral muscular dystrophy. 61 24 56
7987304 1994
20
Hearing loss in facioscapulohumeral muscular dystrophy. 61 24 56
1745341 1991
21
Facioscapulohumeral muscular dystrophy in mice overexpressing FRG1. 54 61 56
16341202 2006
22
Extreme variability of expression in monozygotic twins with FSH muscular dystrophy. 54 61 56
8094896 1993
23
PAX7 target gene repression is a superior FSHD biomarker than DUX4 target gene activation, associating with pathological severity and identifying FSHD at the single-cell level. 61 56
31067297 2019
24
SMCHD1 mutations associated with a rare muscular dystrophy can also cause isolated arhinia and Bosma arhinia microphthalmia syndrome. 61 6
28067909 2017
25
De novo mutations in SMCHD1 cause Bosma arhinia microphthalmia syndrome and abrogate nasal development. 61 6
28067911 2017
26
Large-scale population analysis challenges the current criteria for the molecular diagnosis of fascioscapulohumeral muscular dystrophy. 61 56
22482803 2012
27
Facioscapulohumeral muscular dystrophy: new insights from compound heterozygotes and implication for prenatal genetic counselling. 61 56
22217918 2012
28
Facioscapulohumeral muscular dystrophy (FSHD): an enigma unravelled? 61 56
21984394 2012
29
Patients with a phenotype consistent with facioscapulohumeral muscular dystrophy display genetic and epigenetic heterogeneity. 61 56
21984748 2012
30
The Krüppel-like factor 15 as a molecular link between myogenic factors and a chromosome 4q transcriptional enhancer implicated in facioscapulohumeral dystrophy. 61 56
21937448 2011
31
DUX4, a candidate gene for facioscapulohumeral muscular dystrophy, causes p53-dependent myopathy in vivo. 61 56
21446026 2011
32
Distinguishing the 4qA and 4qB variants is essential for the diagnosis of facioscapulohumeral muscular dystrophy in the Chinese population. 61 56
20736973 2011
33
Analysis of allele-specific RNA transcription in FSHD by RNA-DNA FISH in single myonuclei. 61 56
19888305 2010
34
Facioscapulohumeral muscular dystrophy: epidemiological and molecular study in a north-east Italian population sample. 61 56
19320656 2009
35
Pearls in the junk: dissecting the molecular pathogenesis of facioscapulohumeral muscular dystrophy. 61 56
18974002 2009
36
An isogenetic myoblast expression screen identifies DUX4-mediated FSHD-associated molecular pathologies. 61 56
18833193 2008
37
Alteration of expression of muscle specific isoforms of the fragile X related protein 1 (FXR1P) in facioscapulohumeral muscular dystrophy patients. 61 56
18628314 2008
38
Evolutionary conservation of a coding function for D4Z4, the tandem DNA repeat mutated in facioscapulohumeral muscular dystrophy. 61 56
17668377 2007
39
A large patient study confirming that facioscapulohumeral muscular dystrophy (FSHD) disease expression is almost exclusively associated with an FSHD locus located on a 4qA-defined 4qter subtelomere. 61 56
16987949 2007
40
Expression profile of FSHD supports a link between retinal vasculopathy and muscular dystrophy. 61 56
17151338 2007
41
Genotype-phenotype study in an FSHD family with a proximal deletion encompassing p13E-11 and D4Z4. 61 56
17229919 2007
42
Dysphagia in facioscapulohumeral muscular dystrophy. 61 56
16801662 2006
43
Equal proportions of affected cells in muscle and blood of a mosaic carrier of facioscapulohumeral muscular dystrophy. 61 56
16341710 2006
44
Sarcolemmal reorganization in facioscapulohumeral muscular dystrophy. 61 56
16437580 2006
45
Altered gene silencing and human diseases. 61 56
16451126 2006
46
Variable hypomethylation of D4Z4 in facioscapulohumeral muscular dystrophy. 61 56
16178028 2005
47
The D4Z4 repeat-mediated pathogenesis of facioscapulohumeral muscular dystrophy. 61 56
15674778 2005
48
Contractions of D4Z4 on 4qB subtelomeres do not cause facioscapulohumeral muscular dystrophy. 61 56
15467981 2004
49
Testing the position-effect variegation hypothesis for facioscapulohumeral muscular dystrophy by analysis of histone modification and gene expression in subtelomeric 4q. 61 56
14506132 2003
50
Expression profiling of FSHD muscle supports a defect in specific stages of myogenic differentiation. 61 56
14519683 2003

Variations for Facioscapulohumeral Muscular Dystrophy 1

Copy number variations for Facioscapulohumeral Muscular Dystrophy 1 from CNVD:

7
# CNVD ID Chromosome Start End Type Gene Symbol CNVD Disease
1 184837 4 182600000 191273063 Deletion Facioscapulohumeral muscular dystrophy

Expression for Facioscapulohumeral Muscular Dystrophy 1

Search GEO for disease gene expression data for Facioscapulohumeral Muscular Dystrophy 1.

Pathways for Facioscapulohumeral Muscular Dystrophy 1

Pathways related to Facioscapulohumeral Muscular Dystrophy 1 according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1 11.77 MIR34A MIR335 MIR29A MIR222 MIR221 MIR214
2 10.71 MIR222 MIR221 MIR146B

GO Terms for Facioscapulohumeral Muscular Dystrophy 1

Cellular components related to Facioscapulohumeral Muscular Dystrophy 1 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 extracellular space GO:0005615 9.32 MIR99B MIR376C MIR335 MIR29A MIR222 MIR221

Biological processes related to Facioscapulohumeral Muscular Dystrophy 1 according to GeneCards Suite gene sharing:

(show all 41)
# Name GO ID Score Top Affiliating Genes
1 positive regulation of gene expression GO:0010628 10.04 MIR34A MIR29A MIR21 MIR155 MIR132
2 negative regulation of gene expression GO:0010629 9.98 MIR29A MIR214 MIR21 MIR155 MIR132
3 negative regulation of cell migration GO:0030336 9.92 MIR34A MIR29A MIR214 MIR21
4 positive regulation of angiogenesis GO:0045766 9.88 MIR99B MIR29A MIR21 MIR199B MIR132
5 cellular response to hypoxia GO:0071456 9.85 MIR34A MIR214 MIR155
6 negative regulation of inflammatory response GO:0050728 9.84 MIR222 MIR221 MIR155
7 cholesterol homeostasis GO:0042632 9.83 MIR34A MIR155 MIR132
8 positive regulation of endothelial cell migration GO:0010595 9.81 MIR29A MIR21 MIR199B
9 negative regulation of cell migration involved in sprouting angiogenesis GO:0090051 9.8 MIR221 MIR155 MIR146B
10 positive regulation of epithelial to mesenchymal transition GO:0010718 9.8 MIR222 MIR221 MIR21
11 negative regulation of angiogenesis GO:0016525 9.77 MIR34A MIR29A MIR222 MIR214 MIR21
12 positive regulation of vascular smooth muscle cell proliferation GO:1904707 9.76 MIR222 MIR221 MIR214 MIR21
13 positive regulation of vascular endothelial cell proliferation GO:1905564 9.73 MIR29A MIR21 MIR132
14 negative regulation of cytokine production involved in inflammatory response GO:1900016 9.72 MIR222 MIR221 MIR155
15 negative regulation of vascular associated smooth muscle cell migration GO:1904753 9.71 MIR34A MIR214 MIR21
16 positive regulation of G1/S transition of mitotic cell cycle GO:1900087 9.71 MIR29A MIR222 MIR221 MIR214
17 negative regulation of necroptotic process GO:0060546 9.7 MIR221 MIR214 MIR155
18 positive regulation of endothelial cell differentiation GO:0045603 9.69 MIR99B MIR21 MIR199B
19 negative regulation of vascular endothelial cell proliferation GO:1905563 9.68 MIR34A MIR132
20 positive regulation of vascular associated smooth muscle cell migration GO:1904754 9.68 MIR221 MIR21
21 negative regulation of blood vessel endothelial cell proliferation involved in sprouting angiogenesis GO:1903588 9.68 MIR222 MIR155
22 positive regulation of activated T cell proliferation GO:0042104 9.68 MIR21 MIR155
23 positive regulation of cardiac muscle hypertrophy GO:0010613 9.67 MIR21 MIR155
24 positive regulation of connective tissue replacement GO:1905205 9.67 MIR34A MIR214 MIR155
25 negative regulation of innate immune response GO:0045824 9.66 MIR21 MIR155
26 positive regulation of cardiac muscle hypertrophy in response to stress GO:1903244 9.65 MIR214 MIR155
27 positive regulation of axon regeneration GO:0048680 9.65 MIR222 MIR221
28 negative regulation of interleukin-8 production GO:0032717 9.65 MIR155 MIR132
29 negative regulation of regulatory T cell differentiation GO:0045590 9.64 MIR21 MIR155
30 positive regulation of protein kinase B signaling GO:0051897 9.63 MIR29A MIR222 MIR221 MIR21 MIR199B MIR132
31 positive regulation of vascular smooth muscle cell dedifferentiation GO:1905176 9.61 MIR221 MIR214
32 negative regulation of TRAIL-activated apoptotic signaling pathway GO:1903122 9.61 MIR222 MIR221
33 negative regulation by host of viral genome replication GO:0044828 9.61 MIR222 MIR221 MIR155
34 positive regulation of Schwann cell migration GO:1900149 9.6 MIR222 MIR221
35 negative regulation of vascular wound healing GO:0061044 9.59 MIR34A MIR155
36 positive regulation of Schwann cell proliferation involved in axon regeneration GO:1905046 9.58 MIR222 MIR221
37 negative regulation of hematopoietic stem cell proliferation GO:1902034 9.57 MIR222 MIR221
38 negative regulation of leukocyte adhesion to vascular endothelial cell GO:1904995 9.5 MIR222 MIR221 MIR155
39 negative regulation of cell adhesion molecule production GO:0060354 9.43 MIR222 MIR221 MIR155
40 miRNA mediated inhibition of translation GO:0035278 9.43 MIR29A MIR222 MIR221 MIR21 MIR155 MIR132
41 gene silencing by miRNA GO:0035195 9.36 MIR34A MIR29A MIR222 MIR221 MIR214 MIR21

Molecular functions related to Facioscapulohumeral Muscular Dystrophy 1 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 mRNA binding involved in posttranscriptional gene silencing GO:1903231 9.36 MIR34A MIR29A MIR222 MIR221 MIR214 MIR21

Sources for Facioscapulohumeral Muscular Dystrophy 1

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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