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Summary
Skeletal muscle involvement in lysosomal storage diseases varies, with some showing symptoms and others asymptomatic storage. Differential diagnosis requires considering conditions with prominent acid phosphatase activity.
Area of Science:
- Biochemistry
- Cell Biology
- Genetics
Background:
- Lysosomal storage diseases (LSDs) can affect skeletal muscle.
- Some LSDs present with symptomatic muscle involvement, while others show asymptomatic storage.
Purpose of the Study:
- To review skeletal muscle involvement in various lysosomal storage diseases.
- To highlight the differential diagnostic considerations for muscle storage.
Main Methods:
- Review of literature on lysosomal storage diseases and skeletal muscle pathology.
- Analysis of cell types involved in muscle storage.
Main Results:
- Skeletal muscle is symptomatically involved in acid maltase deficiency and a similar condition.
- Asymptomatic skeletal muscle storage occurs in Batten-Kufs' disease, Fabry's disease, mannosidosis, and unidentified storage diseases.
- Other cell types within muscle biopsies can also show storage.
Conclusions:
- Skeletal muscle pathology is a key feature in several lysosomal storage diseases.
- Differential diagnosis of muscle storage should include conditions with high acid phosphatase activity.