Nonaka type Distal myopathy

A hereditary autosomal recessive muscular disorder with early adult onset that is characterized by weakness of the anterior compartment of the lower limbs, however the quadriceps muscles are spared. Numerous rimmed VACUOLES are present in muscle biopsy, but there appear to be no inflammatory cells. Mutations in the GNE gene have been identified; inclusion body myopathy 2 (OMIM: 600737) is an allelic disorder. OMIM: 605820

Also Known As:

Distal myopathy, Nonaka type; Distal Myopathy with Rimmed Vacuoles; Hereditary Inclusion Body Myopathy; Ibm2; Inclusion Body Myopathy 2; Myopathy, distal, with rimmed vacuoles; Nonaka Myopathy; Nonaka distal myopathy; Rimmed Vacuole Myopathy

Musculoskeletal Diseases: 719
- Muscular Diseases: 10128
  - Atrophic Muscular Disorders: 320
    - Muscular Dystrophies: 5779
      - Distal Myopathies: 216
        Nonaka type Distal myopathy: 138
Nervous System Diseases: 14178
- Neuromuscular Diseases: 2005
  - Muscular Diseases: 10128
    - Atrophic Muscular Disorders: 320
      - Muscular Dystrophies: 5779
        Distal Myopathies: 216
        Nonaka type Distal myopathy: 138
Congenital, Hereditary, and Neonatal Diseases and Abnormalities: 933
- Inborn Genetic Diseases: 11939
  - Muscular Dystrophies: 5779
    - Distal Myopathies: 216
      - Nonaka type Distal myopathy: 138

Marvin Pietruska Selected Research

Marvin Pietruska Research Topics

Disease

Drug/Important Bio-Agent (IBA)