FSHD1
MCID: FCS012
MIFTS: 50

Facioscapulohumeral Muscular Dystrophy 1 (FSHD1) malady

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

Aliases & Classifications for Facioscapulohumeral Muscular Dystrophy 1

Aliases & Descriptions for Facioscapulohumeral Muscular Dystrophy 1:

Name: Facioscapulohumeral Muscular Dystrophy 1 54 66 13
Facioscapulohumeral Muscular Dystrophy 38 12 23 50 24 25 56 66 14
Muscular Dystrophy, Facioscapulohumeral 50 25 29 42 69
Fshd 50 24 25 56 66
Landouzy-Dejerine Muscular Dystrophy 12 50 24 66
Fsh Muscular Dystrophy 23 24 25
Facioscapulohumeral Muscular Dystrophy 1a 50 69
Fshd1a 50 66
Facioscapulohumeral Type Progressive Muscular Dystrophy 25
Muscular Dystrophy, Facioscapulohumeral, Type 1a 50
Facioscapulohumeral Muscular Dystrophy Type 1a 66
Facioscapuloperoneal Muscular Dystrophy 25
Muscular Dystrophy Facioscapulohumeral 52
Muscular Dystrophy, Landouzy-Dejerine 12
Landouzy Dejerine Muscular Dystrophy 12
Facio-Scapulo-Humeral Dystrophy 25
Facioscapulohumeral Dystrophy 56
Facioscapulohumeral Myopathy 56
Facioscapulohumeral Atrophy 25
Landouzy-Dejerine Myopathy 56
Fsh Dystrophy 56
Fshmd1a 50
Fshd1 66
Fmd 66

Characteristics:

Orphanet epidemiological data:

56
facioscapulohumeral dystrophy
Inheritance: Autosomal dominant; Prevalence: 1-9/100000 (Europe); Age of onset: Adolescent,Adult,Childhood,Infancy; Age of death: normal life expectancy;

GeneReviews:

23
facioscapulohumeral muscular dystrophy 1:
Inheritance autosomal dominant inheritance
Onset and clinical course slow progression childhood onset


GeneReviews:

23
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: 56  
Rare neurological diseases


External Ids:

OMIM 54 158900
Disease Ontology 12 DOID:11727
ICD10 33 G71.0
MeSH 42 D020391
NCIt 47 C84704
SNOMED-CT 64 399091004 56096001
Orphanet 56 ORPHA269
UMLS via Orphanet 70 C0238288
ICD10 via Orphanet 34 G71.0
UMLS 69 C0238288

Summaries for Facioscapulohumeral Muscular Dystrophy 1

OMIM : 54 Facioscapulohumeral muscular dystrophy is the third most common hereditary disease of muscle after Duchenne (DMD;... (158900) more...

MalaCards based summary : Facioscapulohumeral Muscular Dystrophy 1, also known as facioscapulohumeral muscular dystrophy, is related to fascioscapulohumeral muscular dystrophy 2, digenic and fibromuscular dysplasia, and has symptoms including hyperlordosis, sensorineural hearing impairment and elevated serum creatine phosphokinase. An important gene associated with Facioscapulohumeral Muscular Dystrophy 1 is FSHMD1A (Facioscapulohumeral Muscular Dystrophy 1A). The drugs Prednisone and Anti-Inflammatory Agents have been mentioned in the context of this disorder. Affiliated tissues include skeletal muscle, testes and heart.

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.

NIH Rare Diseases : 50 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. last updated: 3/15/2013

UniProtKB/Swiss-Prot : 66 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 : 71 Facioscapulohumeral muscular dystrophy (FSHMD, FSHD or FSH)—originally named Landouzy-Dejerine—is a... more...

GeneReviews: NBK1443

Related Diseases for Facioscapulohumeral Muscular Dystrophy 1

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

(show top 50) (show all 53)
id Related Disease Score Top Affiliating Genes
1 fascioscapulohumeral muscular dystrophy 2, digenic 12.0
2 fibromuscular dysplasia 11.9
3 frontometaphyseal dysplasia 11.6
4 muscular dystrophy 11.2
5 otopalatodigital syndrome, type i 11.0
6 melnick-needles syndrome 10.9
7 otopalatodigital syndrome, type ii 10.9
8 coronary artery dissection, spontaneous 10.8
9 retinitis 10.4
10 myasthenia gravis 10.2
11 baraitser-winter syndrome 2 10.2 DMD GAA
12 cocoon syndrome 10.2 PDLIM3 SLC25A4
13 myopathy 10.2
14 mouth disease 10.2
15 cerebral angioma 10.2 DMD DUX4 DUX4L5
16 vascular disease 10.1
17 epilepsy 10.1
18 retinal vascular disease 10.1
19 limb-girdle muscular dystrophy 10.1
20 coats disease 10.1
21 telangiectasis 10.1
22 cubitus valgus with mental retardation and unusual facies 10.1 DMD GAA
23 right bundle branch block 10.0
24 neuropathy 10.0
25 aneurysm 9.9
26 18p deletion syndrome 9.9
27 becker muscular dystrophy 9.9
28 lateral sclerosis 9.9
29 myotonic dystrophy 9.9
30 macroglossia 9.9
31 embryonal rhabdomyosarcoma 9.9
32 birdshot chorioretinopathy 9.9
33 rhabdomyosarcoma 9.9
34 cardiomyopathy 9.9
35 charcot-marie-tooth disease 9.9
36 charcot-marie-tooth neuropathy 9.9
37 plexopathy 9.9
38 familial adenomatous polyposis 9.9
39 chronic pain 9.9
40 sleep apnea 9.9
41 dysphagia 9.9
42 obstructive sleep apnea 9.9
43 neuromuscular disease 9.9
44 encephalopathy 9.9
45 breast cancer 9.9
46 congenital myopathy 9.9
47 sleep disorder 9.9
48 tooth disease 9.9
49 myositis 9.9
50 muscular atrophy 9.9

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

Symptoms by clinical synopsis from OMIM:

158900

Clinical features from OMIM:

158900

Human phenotypes related to Facioscapulohumeral Muscular Dystrophy 1:

56 32 (show all 27)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 hyperlordosis 56 32 Very frequent (99-80%) HP:0003307
2 sensorineural hearing impairment 56 32 Frequent (79-30%) HP:0000407
3 elevated serum creatine phosphokinase 56 32 Very frequent (99-80%) HP:0003236
4 emg abnormality 56 32 Very frequent (99-80%) HP:0003457
5 skeletal muscle atrophy 56 32 Very frequent (99-80%) HP:0003202
6 mask-like facies 56 32 Very frequent (99-80%) HP:0000298
7 abnormality of the eyelashes 56 32 Frequent (79-30%) HP:0000499
8 abnormality of the retinal vasculature 56 32 Frequent (79-30%) HP:0008046
9 palpebral edema 56 32 Frequent (79-30%) HP:0100540
10 seizures 32 HP:0001250
11 intellectual disability 32 HP:0001249
12 dysphagia 32 HP:0002015
13 facial palsy 32 HP:0010628
14 abdominal wall muscle weakness 32 HP:0009023
15 malformation of the heart and great vessels 56 Occasional (29-5%)
16 scapular winging 32 HP:0003691
17 retinal telangiectasia 32 HP:0007763
18 abnormality of cardiovascular system morphology 32 HP:0030680
19 external ophthalmoplegia 32 HP:0000544
20 calf muscle hypertrophy 32 HP:0008981
21 shoulder girdle muscle weakness 32 HP:0003547
22 shoulder girdle muscle atrophy 32 HP:0003724
23 tongue atrophy 32 HP:0012473
24 restrictive deficit on pulmonary function testing 32 HP:0002111
25 scapulohumeral muscular dystrophy 32 HP:0008970
26 exudative retinal detachment 32 HP:0012231
27 beevor's sign 32 HP:0030664

Drugs & Therapeutics for Facioscapulohumeral Muscular Dystrophy 1

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

(show all 43)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Prednisone Approved, Vet_approved Phase 3 53-03-2 5865
2 Anti-Inflammatory Agents Phase 3
3 Antineoplastic Agents, Hormonal Phase 3,Phase 1
4 glucocorticoids Phase 3
5 Hormone Antagonists Phase 3,Phase 1
6 Hormones Phase 3,Phase 1
7 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 3,Phase 1
8
Creatine Approved, Nutraceutical Phase 2 57-00-1 586
9 Pharmaceutical Solutions Phase 2
10
Methyltestosterone Approved Phase 1 58-18-4 6010
11
Testosterone Approved, Investigational Phase 1 58-22-0 6013
12 Anabolic Agents Phase 1
13 Androgens Phase 1
14 Testosterone 17 beta-cypionate Phase 1
15
Testosterone enanthate Phase 1 315-37-7 9416
16 Testosterone undecanoate Phase 1
17
Selenium Approved, Vet_approved 7782-49-2
18
Menthol Approved 2216-51-5 16666
19
Oxandrolone Approved, Investigational 53-39-4 5878
20
Vitamin C Approved, Nutraceutical 50-81-7 5785 54670067
21
Vitamin E Approved, Nutraceutical, Vet_approved 59-02-9 14985
22 Antioxidants
23 Micronutrients
24 Protective Agents
25 Tocopherols
26 Tocotrienols
27 Trace Elements
28 Vitamins
29 Adrenergic Agents
30 Adrenergic Agonists
31 Adrenergic beta-2 Receptor Agonists
32 Adrenergic beta-Agonists
33 Albuterol
34 Anti-Asthmatic Agents
35 Autonomic Agents
36 Bronchodilator Agents
37 Neurotransmitter Agents
38 Peripheral Nervous System Agents
39 Respiratory System Agents
40 Tocolytic Agents
41 Tocopherol Nutraceutical
42 Tocotrienol Nutraceutical
43 Whey Protein Nutraceutical

Interventional clinical trials:

(show all 36)
id Name Status NCT ID Phase
1 Phase III Randomized, Double-Blind Study of Prednisone for Duchenne Muscular Dystrophy Completed NCT00004646 Phase 3
2 Evaluate Safety and Biological Activity of ATYR1940 in Patients With Early Onset Facioscapulohumeral Muscular Dystrophy Completed NCT02603562 Phase 1, Phase 2
3 The Safety and Biological Activity of ATYR1940 in Patients With Limb Girdle or Facioscapulohumeral Muscular Dystrophies Completed NCT02579239 Phase 1, Phase 2
4 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
5 Safety, Tolerability, Pharmacokinetics, and Biological Activity of ATYR1940 in Adult Patients With Muscular Dystrophy Completed NCT02239224 Phase 1, Phase 2
6 Study Evaluating MYO-029 in Adult Muscular Dystrophy Completed NCT00104078 Phase 1, Phase 2
7 Study of ACE-083 in Patients With Facioscapulohumeral Muscular Dystrophy (FSHD) Recruiting NCT02927080 Phase 2
8 Safety, Tolerability, PK, and Activity of ATYR1940 in Patients With Muscular Dystrophy - Study Extension Active, not recruiting NCT02531217 Phase 1, Phase 2
9 Effect of Creatine Monohydrate on Functional Muscle Strength in Children With FSHD Not yet recruiting NCT02948244 Phase 2
10 Intramuscular Transplantation of Muscle Derived Stem Cell and Adipose Derived Mesenchymal Stem Cells in Patients With Facioscapulohumeral Dystrophy (FSHD) Recruiting NCT02208713 Phase 1
11 Study of Testosterone and rHGH in FSHD Not yet recruiting NCT03123913 Phase 1
12 Effects Antioxidants Supplementation on Muscular Function Patients Facioscapulohumeral Dystrophy (FSHD) Unknown status NCT01596803
13 Clinical, Genetic and Epigenetic Characterization of Patients With FSHD Type 1 and FSHD Type 2 Unknown status NCT01970735
14 Neurological and Psychiatric Comorbidities Patients With FSHD 1 and 2 Unknown status NCT02032979
15 Molecular Analysis of Patients With Neuromuscular Disease Unknown status NCT00390104
16 1 Year MRI Followup in Facioscapulohumeral Muscular Dystrophy Completed NCT02159612
17 High Intensity Training in Patients With Facioscapulohumeral Muscular Dystrophy Completed NCT02159963
18 Electrostimulation of Shoulder Girdle and Quadriceps Muscles in Facioscapulohumeral Muscular Dystrophy Patients Completed NCT00821548
19 Randomized Study of Albuterol in Patients With Facioscapulohumeral Muscular Dystrophy Completed NCT00004685
20 Protein Supplementation and Exercise in Patients With FSH Muscular Dystrophy- a Randomized Placebo Controlled Study Completed NCT01618331
21 Physical Training Introduction in Lifestyle of Facioscapulohumeral Dystrophy Patients Completed NCT01116570
22 Prospective Study for 24-months of Physical Training Introduced in Lifestyle of Patients With FSHD : Tolerance, Sustainability and Efficiency of Unsupervised Training Program. Completed NCT01689480
23 Study of Muscle Wasting and Altered Metabolism in Patients With Myotonic Dystrophy Completed NCT00004769
24 Study of Morphology and Functional Magnetic Resonance Imaging (MRI) Muscle Patients With Muscular Dystrophy Type FSHD Benefiting a Physical Training Introduced. Completed NCT01990976
25 Study of Albuterol and Oxandrolone in Patients With Facioscapulohumeral Dystrophy (FSHD) Completed NCT00027391
26 Magnetic Resonance Imaging and Spectroscopy Biomarkers for Facioscapulohumeral Muscular Dystrophy Recruiting NCT01671865
27 Myotonic Dystrophy and Facioscapulohumeral Muscular Dystrophy Registry Recruiting NCT00082108
28 Muscle Inflammation and Fat Infiltration in Patients Affected by FSHD Recruiting NCT02541292
29 Facioscapulohumeral Dystrophy in Children Recruiting NCT02625662
30 Effects of NMES on Muscle Function of Patients With FSHD: a Double-blind Randomized Controled Clinical Trial Recruiting NCT02861911
31 Acceptance and Commitment Therapy for Muscle Disease Recruiting NCT02810028
32 Muscle Oxygenation in Effort in Neuromuscular Diseases Recruiting NCT02789059
33 Routine Health Care of Patients With FSHD Recruiting NCT02622438
34 Bone Health in Facioscapulohumeral Muscular Dystrophy Active, not recruiting NCT02413190
35 A Multicenter Collaborative Study on the Clinical Features, Expression Profiling, and Quality of Life of Infantile Onset FSHD Active, not recruiting NCT01437345
36 Rasch-analysis of Clinical Severity in FSHD Active, not recruiting NCT02766985

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:

id Genetic test Affiliating Genes
1 Facioscapulohumeral Muscular Dystrophy 29 24 DUX4

Anatomical Context for Facioscapulohumeral Muscular Dystrophy 1

MalaCards organs/tissues related to Facioscapulohumeral Muscular Dystrophy 1:

39
Skeletal Muscle, Testes, Heart, Tongue

Publications for Facioscapulohumeral Muscular Dystrophy 1

Variations for Facioscapulohumeral Muscular Dystrophy 1

Copy number variations for Facioscapulohumeral Muscular Dystrophy 1 from CNVD:

7
id CNVD ID Chromosom 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

GO Terms for Facioscapulohumeral Muscular Dystrophy 1

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

id Name GO ID Score Top Affiliating Genes
1 Z disc GO:0030018 8.8 DMD FRG1 PDLIM3

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

id Name GO ID Score Top Affiliating Genes
1 muscle cell cellular homeostasis GO:0046716 8.62 DMD GAA

Sources for Facioscapulohumeral Muscular Dystrophy 1

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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