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Atypical Miyoshi distal myopathy: A case report
Meiling Wang1, Yujie Guo1, Yong Fu1
1Department of Neurology, The Affiliated Hospital of Binzhou Medical University, Binzhou, Shandong 256603, P.R. China.
Experimental and Therapeutic Medicine
|November 25, 2016
Summary
Miyoshi myopathy (MM), a common distal myopathy, presents atypical symptoms in a recent case. Diagnosis was confirmed through pathology and immunohistochemistry, highlighting the condition's varied presentations.
Area of Science:
- Neurology
- Genetics
- Pathology
Background:
- Miyoshi myopathy (MM) is a common autosomal recessive distal myopathy, a subtype of dysferlinopathy.
- It typically presents with weakness in calf muscles during early adulthood.
- Dysferlin protein deficiency underlies this condition.
Purpose of the Study:
- To report an atypical case of Miyoshi myopathy.
- To review literature on MM and dysferlinopathy.
- To emphasize diagnostic methods for MM.
Main Methods:
- Case study of a 37-year-old male with atypical leg weakness.
- Pathological examination of muscle biopsy.
- Immunohistochemical staining for dysferlin.
- Electromyography.
- Literature review.
Main Results:
- The patient initially presented with left foot weakness, mimicking inflammatory myopathy.
- Symptoms improved with corticosteroid treatment.
- Pathology, immunohistochemistry, and electromyography confirmed Miyoshi myopathy.
- Dysferlin deficiency was identified via immunohistochemistry.
Conclusions:
- This case highlights the phenotypic heterogeneity of Miyoshi myopathy.
- Pathological and immunohistochemical findings are crucial for diagnosing dysferlinopathy.
- Inflammatory changes can be present in dysferlinopathy muscle biopsies.
