Facioscapulohumeral muscular dystrophy 1

Preferred Label : Facioscapulohumeral muscular dystrophy 1;

Symbol : FSHD1;

CISMeF acronym : FMD; FSHD; FSHD1A; FSHD1;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Muscular dystrophy, facioscapulohumeral, type 1; Facioscapulohumeral muscular dystrophy; Muscular dystrophy, facioscapulohumeral, type 1a; Landouzy-dejerine muscular dystrophy; FSHD; FMD; FSHD1A;

Included titles and symbols : Facioscapulohumeral muscular dystrophy, infantile; Facioscapulohumeral dystrophy with sensorineural hearing loss and tortuosity of retinal arterioles;

Description : 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;

Inheritance : Autosomal dominant;

Molecular basis : Caused by contraction of a D4Z4 repeat array at chromosome 4q35;

Laboratory abnormalities : Increased serum creatine kinase;

Prefixed ID : #158900;

Details

Origin ID

158900;

UMLS CUI

C5399970;

Automatic exact mappings (from CISMeF team)
- Arterial fibromuscular dysplasia [ICD-11 Subcategory]
- FLNA wt Allele [NCIt concept]
- Facioscapulohumeral muscular dystrophy 1a [MeSH concept]
- Flow-Mediated Vasodilation [NCIt concept]
- facioscapulohumeral muscular dystrophy 1a [MeSH Supplementary Concept]
- frontometaphyseal dysplasia [DO Concept]
Broader ORDO disease(s)
- Facioscapulohumeral dystrophy [ORDO Disease]
CISMeF manual mappings
- Facioscapulohumeral dystrophy [ORDO Disease]
Currated CISMeF NLP mapping
- Facioscapulohumeral Muscular Dystrophy 1 [NCIt concept]
- Facioscapulohumeral muscular dystrophy [ICD-11 Subcategory]
- Facioscapulohumeral muscular dystrophy [MedDRA Preferred Term]
- Facioscapulohumeral muscular dystrophy (disorder) [SNOMED CT concept]
- Muscular dystrophy [ICD-10 Sub-category]
- facioscapulohumeral muscular dystrophy [Disease (Nov.)]
- facioscapulohumeral muscular dystrophy [DO Concept]
- facioscapulohumeral muscular dystrophy [SNOMED Notion]
- facioscapulohumeral muscular dystrophy 1 [DO Concept]
- muscular dystrophy, facioscapulohumeral [MeSH Descriptor]
- muscular dystrophy, facioscapulohumeral [MeSH concept]
DO Cross reference
- facioscapulohumeral muscular dystrophy 1 [DO Concept]
HPO term(s)
- Abdominal wall muscle weakness [HPO term]
- Autosomal dominant inheritance [HPO term]
- Beevor's sign [HPO term]
- Calf hypertrophy [HPO term]
- Calf muscle hypertrophy [HPO term]
- Childhood onset [HPO term]
- Dysphagia [HPO term]
- Elevated circulating creatine kinase concentration [HPO term]
- External ophthalmoplegia [HPO term]
- Exudative retinal detachment [HPO term]
- Facial palsy [HPO term]
- Intellectual disability [HPO term]
- Muscle biopsy shows dystrophic changes [HPO term]
- Muscle weakness and atrophy [HPO term]
- Restrictive deficit on pulmonary function testing [HPO term]
- Restrictive ventilatory defect [HPO term]
- Retinal telangiectasia [HPO term]
- Scapular winging [HPO term]
- Scapulohumeral muscular dystrophy [HPO term]
- Seizure [HPO term]
- Sensorineural hearing impairment [HPO term]
- Shoulder girdle muscle atrophy [HPO term]
- Shoulder girdle muscle weakness [HPO term]
- Skeletal muscle atrophy [HPO term]
- Slowly progressive [HPO term]
- Tongue atrophy [HPO term]
- Weakness [HPO term]
ORDO concept(s)
- Facioscapulohumeral dystrophy [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Facioscapulohumeral Muscular Dystrophy 1 [NCIt concept]
- Facioscapulohumeral muscular dystrophy 1a [MeSH concept]
- facioscapulohumeral muscular dystrophy 1a [MeSH Supplementary Concept]
Validated automatic mappings to NTBT
- Facioscapulohumeral Muscular Dystrophy [NCIt concept]

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