Nonaka myopathy is an autosomal recessive and slowly progressive distal myopathy. It is part of a rare group of myopathies predominantly affecting the distal limb musculature. Over 150 cases have been reported across the Middle East, Japan and Europe. We report the case of a 33-year-old woman presenting with symmetrical upper and lower limb weakness, most severely affecting the distal muscle groups. After extensive neurological investigation including neurophysiology, muscle biopsy and genetic analysis, she was finally diagnosed with Nonaka myopathy and treated conservatively with physiotherapy.
|Journal||BMJ case reports|
|Publication status||Published - 3 Apr 2019|
Bibliographical note© BMJ Publishing Group Limited 2019. No commercial re-use. See rights and permissions. Published by BMJ.
- Diagnosis, Differential
- Distal Myopathies/complications
- Muscle Weakness/diagnosis
- Peripheral Nervous System Diseases/diagnosis