Slowly progressive distal muscle weakness: neuropathy or myopathy?

Yafit Nahari; Ahmed Abbas; Elizabeth Curtis; Saiju Jacob

doi:10.1136/bcr-2018-226903

Slowly progressive distal muscle weakness: neuropathy or myopathy?

BMJ Case Rep. 2019 Apr 3;12(4):e226903. doi: 10.1136/bcr-2018-226903.

Authors

Yafit Nahari¹, Ahmed Abbas², Elizabeth Curtis¹, Saiju Jacob¹

Affiliations

¹ Department of Neurology, University Hospitals Birmingham NHS Foundation Trust, Birmingham, UK.
² Department of Neurophysiology, University Hospitals Birmingham NHS Foundation Trust, Birmingham, UK.

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.

Keywords: neuro genetics; neuromuscular disease.

Publication types

Case Reports

MeSH terms

Adult
Diagnosis, Differential
Distal Myopathies / complications
Distal Myopathies / diagnosis*
Female
Humans
Muscle Weakness / diagnosis*
Muscle Weakness / etiology
Peripheral Nervous System Diseases / diagnosis*

Supplementary concepts

Distal myopathy, Nonaka type