Miyoshi muscular dystrophy 1

Preferred Label : Miyoshi muscular dystrophy 1;

Symbol : MMD1;

CISMeF acronym : MMD1;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Muscular dystrophy, distal, late-onset, autosomal recessive; Miyoshi myopathy;

Description : Miyoshi muscular dystrophy is an autosomal recessive skeletal muscle disorder characterized by onset in young adulthood of distal muscle weakness affecting the upper and lower limbs but sparing the intrinsic hand muscles. Muscle weakness and atrophy particularly affects the gastrocnemius and soleus muscles, and can later spread to involve the thigh and gluteal muscles. Patients showed impaired tip-toe standing, difficulty in climbing stairs, and difficulty walking, but usually remain ambulatory. Serum creatine kinase is increased and muscle biopsies show myopathic and dystrophic changes with necrosis (summary by Miyoshi et al., 1986). - Genetic Heterogeneity of Miyoshi Muscular Dystrophy Miyoshi muscular dystrophy is a genetically heterogeneous disorder: MMD2 (613318) has been mapped to chromosome 10p, and MMD3 (613319) is caused by mutation in the ANO5 gene (608662) on chromosome 11p14. See also Welander myopathy (604454), an autosomal dominant form of late-onset distal myopathy.;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the dysferlin gene (DYS, 603009.0001);

Laboratory abnormalities : Increased creatine kinase;

Prefixed ID : #254130;

Détails

Origin ID

254130;

UMLS CUI

C4551973;

Currated CISMeF NLP mapping
- Distal myopathy, Miyoshi type [ICD-11 More detail]
- Miyoshi muscular dystrophy [DO Concept]
- Miyoshi myopathy [Disease (Nov.)]
- Miyoshi myopathy [MeSH concept]
- Miyoshi myopathy [ORDO Disease]
- miyoshi myopathy [MeSH Supplementary Concept]
DO Cross reference
- Miyoshi muscular dystrophy 1 [DO Concept]
Genes related to phenotype
- Dysferlin [OMIM gene]
HPO term(s)
- Adult onset [HPO term]
- Amyotrophy involving the lower limbs [HPO term]
- Autosomal recessive inheritance [HPO term]
- Decreased Achilles reflex [HPO term]
- Decreased or absent ankle reflexes [HPO term]
- Decreased/absent ankle reflexes [HPO term]
- Deposits immunoreactive to beta-amyloid protein [HPO term]
- Difficulty climbing stairs [HPO term]
- Distal amyotrophy [HPO term]
- Distal muscle weakness [HPO term]
- Elevated circulating creatine kinase concentration [HPO term]
- Heterogeneous [HPO term]
- Lower limb muscle weakness [HPO term]
- Muscle biopsy shows dystrophic changes [HPO term]
- Muscle fibrillation [HPO term]
- Muscular dystrophy [HPO term]
- Tip-toe gait [HPO term]
- Toe walking [HPO term]
ORDO concept(s)
- Miyoshi myopathy [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Miyoshi Muscular Dystrophy 1 [NCIt concept]
- Miyoshi muscular dystrophy 1 [DO Concept]
- Miyoshi myopathy [ORDO Disease]
- Miyoshi myopathy [MeSH concept]
- Miyoshi myopathy [Disease (Nov.)]
- miyoshi myopathy [MeSH Supplementary Concept]
Validated automatic mappings to BTNT
- Miyoshi Muscular Dystrophy 1 [NCIt concept]
- Miyoshi muscular dystrophy 1 [DO Concept]

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