Facioscapulohumeral Muscular Dystrophy 1 malady
Genetic diseases, Rare diseases, Neuronal diseases, Muscle diseases categories
Aliases & Descriptions for Facioscapulohumeral Muscular Dystrophy 1:
MalaCards categories: See all MalaCards categories (disease lists)
Global: Genetic diseases, Rare diseases
Anatomical: Neuronal diseases, Muscle diseases
Rare neurological diseases
Characteristics (Orphanet epidemiological data):48
facioscapulohumeral muscular dystrophy:
Inheritance: Autosomal dominant; Prevalence: 1-9/100000 (Europe); Age of onset: Adolescent,Adult,Childhood,Infancy; Age of death: normal life expectancy
OMIM:46 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 muscular dystrophy and retinitis, and has symptoms including mask-like facies, amyotrophy and hyperlordosis. An important gene associated with Facioscapulohumeral Muscular Dystrophy 1 is SMCHD1 (structural maintenance of chromosomes flexible hinge domain containing 1). Affiliated tissues include skeletal muscle, b cells and heart.
Genetics Home Reference:21 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:42 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
GeneReviews summary for fsh
Symptoms by clinical synopsis from OMIM:158900
Clinical features from OMIM:158900
Symptoms:48 (show all 11)
HPO human phenotypes related to Facioscapulohumeral Muscular Dystrophy 1:(show all 28)
MalaCards organs/tissues related to Facioscapulohumeral Muscular Dystrophy 1:31
Skeletal muscle, B cells, Heart, Adipocyte, Myeloid, T cells, Endothelial, Tongue
Clinvar genetic disease variations for Facioscapulohumeral Muscular Dystrophy 1:5
Search GEO for disease gene expression data for Facioscapulohumeral Muscular Dystrophy 1.
26ICD10 via Orphanet
34MESH via Orphanet
47OMIM via Orphanet
57SNOMED-CT via Orphanet
62UMLS via Orphanet