Myosin storage myopathy
Alternate names[edit | edit source]
Hyaline body myopathy
Definition[edit | edit source]
Myosin storage myopathy is a condition that causes muscle weakness (myopathy) that does not worsen or worsens very slowly over time.
Cause[edit | edit source]
Myosin storage myopathy is caused by changes (mutations) in the MYH7 gene.
Inheritance[edit | edit source]
It is typically inherited in an autosomal dominant manner.
Signs and symptoms[edit | edit source]
- Myosin storage myopathy is primarily characterized by muscle weakness with minimal or very slow progression.
- As a result, affected people may experience delayed motor milestones (i.e. walking), trouble climbing stairs, difficulty lifting arms above shoulder level, and less commonly, breathing problems.
Diagnosis[edit | edit source]
Molecular Genetics Tests include:
- Sequence analysis of select exons
- Deletion/duplication analysis
- Sequence analysis of the entire coding region
- Targeted variant analysis
Treatment[edit | edit source]
Treatment is generally supportive and may include orthopedic treatments, as well as physical, occupational or speech therapy.
NIH genetic and rare disease info[edit source]
Myosin storage myopathy is a rare disease.
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