MCID: FCS012
MIFTS: 50

Facioscapulohumeral Muscular Dystrophy 1

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

Aliases & Classifications for Facioscapulohumeral Muscular Dystrophy 1

MalaCards integrated aliases for Facioscapulohumeral Muscular Dystrophy 1:

Name: Facioscapulohumeral Muscular Dystrophy 1 54 71 13
Facioscapulohumeral Muscular Dystrophy 38 12 23 50 24 25 56 71 29 14
Fshd 50 24 25 56 71
Muscular Dystrophy, Facioscapulohumeral 50 25 42 69
Landouzy-Dejerine Muscular Dystrophy 12 50 24 71
Fsh Muscular Dystrophy 23 24 25
Facioscapulohumeral Muscular Dystrophy 1a 50 69
Fshd1a 50 71
Facioscapulohumeral Type Progressive Muscular Dystrophy 25
Muscular Dystrophy, Facioscapulohumeral, Type 1a 50
Facioscapulohumeral Muscular Dystrophy Type 1a 71
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 71
Fmd 71

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;

OMIM:

54
Inheritance:
autosomal dominant

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


HPO:

32
facioscapulohumeral muscular dystrophy 1:
Onset and clinical course childhood onset slow progression
Inheritance autosomal dominant inheritance


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


Summaries for Facioscapulohumeral Muscular Dystrophy 1

OMIM : 54
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)

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 mask-like facies. An important gene associated with Facioscapulohumeral Muscular Dystrophy 1 is FSHMD1A (Facioscapulohumeral Muscular Dystrophy 1A). The drugs Pharmaceutical Solutions and Creatine have been mentioned in the context of this disorder. Affiliated tissues include skeletal muscle, testes and heart.

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 : 71 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.

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.

Wikipedia : 72 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 57)
id Related Disease Score Top Affiliating Genes
1 fascioscapulohumeral muscular dystrophy 2, digenic 12.0
2 fibromuscular dysplasia 11.9
3 frontometaphyseal dysplasia 11.5
4 muscular dystrophy 11.2
5 otopalatodigital syndrome, type i 11.0
6 otopalatodigital syndrome, type ii 10.9
7 melnick-needles syndrome 10.9
8 frontometaphyseal dysplasia 1 10.8
9 coronary artery dissection, spontaneous 10.7
10 frontometaphyseal dysplasia 2 10.7
11 retinal cancer 10.5 FRG1 LOC283788
12 deafness, autosomal dominant 20/26 10.5 DMD GAA
13 perrault syndrome 5 10.4 PDLIM3 SLC25A4
14 eosinophilic variant of chromophobe renal cell carcinoma 10.4 DMD DUX4 DUX4L5
15 retinitis 10.4
16 myasthenia gravis 10.2
17 mouth disease 10.2
18 myopathy 10.2
19 cubitus valgus with mental retardation and unusual facies 10.2 DMD GAA
20 telangiectasis 10.1
21 vascular disease 10.1
22 epilepsy 10.1
23 retinal vascular disease 10.1
24 limb-girdle muscular dystrophy 10.1
25 coats disease 10.1
26 right bundle branch block 10.0
27 neuropathy 10.0
28 periodontosis 10.0 DMD DUX4 DUX4L5 FRG1 FSHMD1A SMCHD1
29 aneurysm 9.9
30 charcot-marie-tooth disease 9.9
31 cardiomyopathy 9.9
32 plexopathy 9.9
33 charcot-marie-tooth neuropathy 9.9
34 familial adenomatous polyposis 9.9
35 sleep apnea 9.9
36 chronic pain 9.9
37 breast cancer 9.9
38 obstructive sleep apnea 9.9
39 neuromuscular disease 9.9
40 dysphagia 9.9
41 congenital myopathy 9.9
42 sleep disorder 9.9
43 encephalopathy 9.9
44 tooth disease 9.9
45 myositis 9.9
46 muscular atrophy 9.9
47 18p deletion syndrome 9.9
48 becker muscular dystrophy 9.9
49 lateral sclerosis 9.9
50 myotonic dystrophy 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 via clinical synopsis from OMIM:

54

Laboratory- Abnormalities:
increased serum creatine kinase

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

Abdomen- Gastroin testinal:
dysphagia (less common)

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

Head And Neck- Mouth:
tongue atrophy

Head And Neck- Ears:
sensorineural hearing loss

Chest- Ribs Sternum Clavicles And Scapulae:
scapular winging

Muscle Soft Tissue:
calf hypertrophy
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)
more
Head And Neck- Face:
facial muscle weakness and atrophy

Respiratory- Lung:
restrictive pulmonary dysfunction


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 hallmark (90%) Very frequent (99-80%) HP:0003307
2 sensorineural hearing impairment 56 32 frequent (33%) Frequent (79-30%) HP:0000407
3 mask-like facies 56 32 hallmark (90%) Very frequent (99-80%) HP:0000298
4 palpebral edema 56 32 frequent (33%) Frequent (79-30%) HP:0100540
5 elevated serum creatine phosphokinase 56 32 hallmark (90%) Very frequent (99-80%) HP:0003236
6 emg abnormality 56 32 hallmark (90%) Very frequent (99-80%) HP:0003457
7 skeletal muscle atrophy 56 32 hallmark (90%) Very frequent (99-80%) HP:0003202
8 abnormality of the eyelashes 56 32 frequent (33%) Frequent (79-30%) HP:0000499
9 abnormality of the retinal vasculature 56 32 frequent (33%) Frequent (79-30%) HP:0008046
10 dysphagia 32 occasional (7.5%) HP:0002015
11 seizures 32 HP:0001250
12 intellectual disability 32 HP:0001249
13 scapular winging 32 HP:0003691
14 shoulder girdle muscle weakness 32 HP:0003547
15 external ophthalmoplegia 32 HP:0000544
16 shoulder girdle muscle atrophy 32 HP:0003724
17 exudative retinal detachment 32 HP:0012231
18 tongue atrophy 32 HP:0012473
19 facial palsy 32 HP:0010628
20 calf muscle hypertrophy 32 HP:0008981
21 retinal telangiectasia 32 HP:0007763
22 abdominal wall muscle weakness 32 HP:0009023
23 malformation of the heart and great vessels 56 Occasional (29-5%)
24 abnormality of cardiovascular system morphology 32 occasional (7.5%) HP:0030680
25 restrictive deficit on pulmonary function testing 32 HP:0002111
26 scapulohumeral muscular dystrophy 32 HP:0008970
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 27)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1 Pharmaceutical Solutions Phase 2
2
Creatine Nutraceutical Phase 2 57-00-1 586
3
Methyltestosterone Approved Phase 1 58-18-4 6010
4
Testosterone Approved, Investigational Phase 1 58-22-0 6013
5 Anabolic Agents Phase 1
6 Androgens Phase 1
7 Antineoplastic Agents, Hormonal Phase 1
8 Hormone Antagonists Phase 1
9 Hormones Phase 1
10 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 1
11 Testosterone 17 beta-cypionate Phase 1
12
Testosterone enanthate Phase 1 315-37-7 9416
13 Testosterone undecanoate Phase 1
14
Selenium Approved, Vet_approved 7782-49-2
15
Menthol Approved 2216-51-5 16666
16 Tocopherol Approved, Nutraceutical
17
Vitamin C Approved, Nutraceutical 50-81-7 5785 54670067
18
Vitamin E Approved, Nutraceutical, Vet_approved 59-02-9 14985
19 Antioxidants
20 Micronutrients
21 Protective Agents
22 Tocopherols
23 Tocotrienols
24 Trace Elements
25 Vitamins
26 Tocotrienol Investigational, Nutraceutical 6829-55-6
27 Whey Protein Nutraceutical

Interventional clinical trials:

(show all 21)

id Name Status NCT ID Phase Drugs
1 Evaluate Safety and Biological Activity of ATYR1940 in Patients With Early Onset Facioscapulohumeral Muscular Dystrophy Completed NCT02603562 Phase 1, Phase 2
2 The Safety and Biological Activity of ATYR1940 in Patients With Limb Girdle or Facioscapulohumeral Muscular Dystrophies Completed NCT02579239 Phase 1, Phase 2
3 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
4 Safety, Tolerability, Pharmacokinetics, and Biological Activity of ATYR1940 in Adult Patients With Muscular Dystrophy Completed NCT02239224 Phase 1, Phase 2
5 Study Evaluating MYO-029 in Adult Muscular Dystrophy Completed NCT00104078 Phase 1, Phase 2 MYO-029
6 Study of ACE-083 in Patients With Facioscapulohumeral Muscular Dystrophy (FSHD) Recruiting NCT02927080 Phase 2 ACE-083;ACE-083 or placebo
7 Safety, Tolerability, PK, and Activity of ATYR1940 in Patients With Muscular Dystrophy - Study Extension Active, not recruiting NCT02531217 Phase 1, Phase 2
8 Effect of Creatine Monohydrate on Functional Muscle Strength in Children With FSHD Not yet recruiting NCT02948244 Phase 2
9 Study of Testosterone and rHGH in FSHD Recruiting NCT03123913 Phase 1 Testosterone Enanthate;Somatropin
10 Clinical, Genetic and Epigenetic Characterization of Patients With FSHD Type 1 and FSHD Type 2 Unknown status NCT01970735
11 Effects Antioxidants Supplementation on Muscular Function Patients Facioscapulohumeral Dystrophy (FSHD) Unknown status NCT01596803
12 Physical Training Introduction in Lifestyle of Facioscapulohumeral Dystrophy Patients Completed NCT01116570
13 1 Year MRI Followup in Facioscapulohumeral Muscular Dystrophy Completed NCT02159612
14 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
15 Study of Morphology and Functional Magnetic Resonance Imaging (MRI) Muscle Patients With Muscular Dystrophy Type FSHD Benefiting a Physical Training Introduced. Completed NCT01990976
16 Electrostimulation of Shoulder Girdle and Quadriceps Muscles in Facioscapulohumeral Muscular Dystrophy Patients Completed NCT00821548
17 Protein Supplementation and Exercise in Patients With FSH Muscular Dystrophy- a Randomized Placebo Controlled Study Completed NCT01618331
18 Neurological and Psychiatric Comorbidities Patients With FSHD 1 and 2 Recruiting NCT02032979
19 Muscle Inflammation and Fat Infiltration in Patients Affected by FSHD Recruiting NCT02541292
20 Myotonic Dystrophy and Facioscapulohumeral Muscular Dystrophy Registry Recruiting NCT00082108
21 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 HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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