Miyoshi myopathy

An autosomal recessive skeletal muscle disorder characterized by onset in young adulthood of distal muscle weakness and atrophy affecting the upper and lower limbs but sparing the intrinsic hand muscles. The SKELETAL MUSCLES are particularly affected and progression can involve the thigh and gluteal muscles. Patients have difficulty walking, but usually remain ambulatory. Serum CREATINE KINASE is increased and muscle biopsies show myopathic and dystrophic changes with NECROSIS. Mutations in the DYSF gene have been identified. OMIM: 254130

Also Known As:

Miyoshi Muscular Dystrophy 1; Miyoshi distal myopathy; Miyoshi myopathy 1; Muscular Dystrophy, Distal, Late-Onset, Autosomal Recessive; Muscular dystrophy, distal, late onset, autosomal recessive; mmd1 myopathy

Nervous System Diseases: 14737
- Neurologic Manifestations: 7223
  - Neuromuscular Manifestations: 24
    - Muscular Atrophy: 4519
      - Miyoshi myopathy: 147
- Neuromuscular Diseases: 2048
  - Muscular Diseases: 10368
    - Atrophic Muscular Disorders: 327
      - Muscular Dystrophies: 5839
        Distal Myopathies: 223
        Miyoshi myopathy: 147
Signs and Symptoms Pathological Conditions
- Anatomical Pathological Conditions
  - Atrophy: 28008
    - Muscular Atrophy: 4519
      - Miyoshi myopathy: 147
- Signs and Symptoms
  - Neurologic Manifestations: 7223
    - Neuromuscular Manifestations: 24
      - Muscular Atrophy: 4519
        Miyoshi myopathy: 147
Musculoskeletal Diseases: 751
- Muscular Diseases: 10368
  - Atrophic Muscular Disorders: 327
    - Muscular Dystrophies: 5839
      - Distal Myopathies: 223
        Miyoshi myopathy: 147
Congenital, Hereditary, and Neonatal Diseases and Abnormalities: 960
- Inborn Genetic Diseases: 12342
  - Muscular Dystrophies: 5839
    - Distal Myopathies: 223
      - Miyoshi myopathy: 147

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Drug/Important Bio-Agent (IBA)