Myopathy, distal, 4

Preferred Label : Myopathy, distal, 4;

Symbol : MPD4;

CISMeF acronym : MPD4;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Williams distal myopathy;

Description : Williams distal myopathy is an autosomal dominant slowly progressive muscular disorder characterized by distal muscle weakness and atrophy affecting the upper and lower limbs. Onset occurs around the third to fourth decades of life, and patients remain ambulatory even after long disease duration. Muscle biopsy shows nonspecific changes with no evidence of rods, necrosis, or inflammation (summary by Duff et al., 2011). Mutation in the FLNC gene can also cause myofibrillar myopathy-5 (MFM5; 609524), which shows a different pattern of muscle involvement and different histologic changes.;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the filamin C gene (FLNC, 102565.0003);

Laboratory abnormalities : Normal or mildly increased serum creatine kinase;

Prefixed ID : #614065;

Détails

Origin ID

614065;

UMLS CUI

C3279722;

Automatic exact mappings (from CISMeF team)
- Distal myopathy with posterior leg and anterior hand involvement [ORDO Disease]
- distal muscular dystrophy 4 [DO Concept]
DO Cross reference
- distal muscular dystrophy 4 [DO Concept]
Genes related to phenotype
- Filamin C [OMIM gene]
HPO term(s)
- Abnormality of the calf musculature [HPO term]
- Autosomal dominant inheritance [HPO term]
- Cardiomyopathy [HPO term]
- Distal lower limb amyotrophy [HPO term]
- Distal upper limb amyotrophy [HPO term]
- Hyporeflexia [HPO term]
- Mildly elevated creatine kinase [HPO term]
- Muscle weakness [HPO term]
- Myopathy [HPO term]
- Proximal muscle weakness [HPO term]
- Skeletal muscle atrophy [HPO term]
- Slowly progressive [HPO term]
ORDO concept(s)
- Distal myopathy with posterior leg and anterior hand involvement [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]

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