Facioscapulohumeral Muscular Dystrophy 1 malady
Categories: Genetic diseases, Rare diseases, Neuronal diseases, Muscle diseases
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Aliases & Descriptions for Facioscapulohumeral Muscular Dystrophy 1:
Orphanet epidemiological data:53
facioscapulohumeral muscular dystrophy:
Inheritance: Autosomal dominant; Prevalence: 1-9/100000 (Europe); Age of onset: Adolescent,Adult,Childhood,Infancy; Age of death: normal life expectancy
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]...
Global: Genetic diseases, Rare diseases
Anatomical: Neuronal diseases, Muscle diseases
ICD10: 30 29
Rare neurological diseases
OMIM:51 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 frontometaphyseal dysplasia and fascioscapulohumeral muscular dystrophy 2, digenic, and has symptoms including mask-like facies, skeletal muscle atrophy and hyperlordosis. An important gene associated with Facioscapulohumeral Muscular Dystrophy 1 is FSHMD1A (Facioscapulohumeral Muscular Dystrophy 1A). Affiliated tissues include skeletal muscle, tongue and testes.
UniProtKB/Swiss-Prot:69 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.
NIH Rare Diseases:47 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
Wikipedia:70 Facioscapulohumeral muscular dystrophy (FSHMD, FSHD or FSH)—originally named Landouzy-Dejerine—is a... more...
GeneReviews for NBK1443
Human phenotypes related to Facioscapulohumeral Muscular Dystrophy 1:63 53 (show all 25)
Drugs for Facioscapulohumeral Muscular Dystrophy 1 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):(show all 38)
Interventional clinical trials:(show all 35)
Search NIH Clinical Center for Facioscapulohumeral Muscular Dystrophy 1
MalaCards organs/tissues related to Facioscapulohumeral Muscular Dystrophy 1:35
Skeletal muscle, Tongue, Testes, Bone, Heart
Clinvar genetic disease variations for Facioscapulohumeral Muscular Dystrophy 1:5
Copy number variations for Facioscapulohumeral Muscular Dystrophy 1 from CNVD:6
Search GEO for disease gene expression data for Facioscapulohumeral Muscular Dystrophy 1.
Cellular components related to Facioscapulohumeral Muscular Dystrophy 1 according to GeneCards Suite gene sharing:
Biological processes related to Facioscapulohumeral Muscular Dystrophy 1 according to GeneCards Suite gene sharing:
30ICD10 via Orphanet
39MESH via Orphanet
52OMIM via Orphanet
62SNOMED-CT via Orphanet
66Tumor Gene Family of Databases
68UMLS via Orphanet