Slowly progressive distal muscle weakness: neuropathy or myopathy?

Nahari, Yafit and Abbas, Ahmed and Curtis, Elizabeth and Jacob, Saiju (2019) Slowly progressive distal muscle weakness: neuropathy or myopathy? BMJ case reports, 12 (4). ISSN 1757-790X. This article is available to all UHB staff and students via ASK Discovery tool http://tinyurl.com/z795c8c by using their UHB Athens login IDs

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Official URL: https://casereports.bmj.com/lookup/pmidlookup?view...

Abstract

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.

Item Type: Article
Additional Information: This article is available to all UHB staff and students via ASK Discovery tool http://tinyurl.com/z795c8c by using their UHB Athens login IDs
Subjects: QT Human physiology
WE Musculoskeletal. Orthopaedics
WL Nervous system. Neurology
Divisions: Emergency Services > Neurology
Related URLs:
Depositing User: Miss Emily Johnson
Date Deposited: 12 Apr 2019 13:51
Last Modified: 12 Apr 2019 13:51
URI: http://www.repository.heartofengland.nhs.uk/id/eprint/2022

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