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VOLUME 9 , ISSUE 1--3 ( January-December, 2024 ) > List of Articles

CASE REPORT

Nonaka Myopathy—Adult Distal-onset Myopathy with Unique Topographical Weakness: A Case Report

Rajendra K Sureka, Amit Agarwal, Jatinkumar Jain, Vineet Mishra, Himanshu Kaushal

Keywords : Case report, Glucosamine (UDP-N-acetyl)-2-epimerase/N-acetyl mannosamine kinase myopathy, Hereditary inclusion body myopathy, Nonaka myopathy, Quadriceps sparing

Citation Information : Sureka RK, Agarwal A, Jain J, Mishra V, Kaushal H. Nonaka Myopathy—Adult Distal-onset Myopathy with Unique Topographical Weakness: A Case Report. J Mahatma Gandhi Univ Med Sci Tech 2024; 9 (1--3):1-3.

DOI: 10.5005/jp-journals-10057-0232

License: CC BY-NC 4.0

Published Online: 23-10-2024

Copyright Statement:  Copyright © 2024; The Author(s).


Abstract

Nonaka myopathy, also known as hereditary inclusion body myopathy (HIBM), glucosamine (UDP-N-acetyl)-2-epimerase/N-acetyl mannosamine kinase (GNE) myopathy is a very rare form of autosomal recessive myopathy characterized by adult-onset distal skeletal muscle weakness. Its prevalence is estimated at around 1–9/10,00,000. Patients with HIMB present in early adulthood with the age of onset between 20 and 40 years with distal muscle weakness, predominantly bilateral foot drop, or tripping (tibialis anterior weakness). Sparing of the quadriceps muscle is the specific topographic feature of this myopathy. Despite these specific features and specific genetic mutations, HIMB is rarely diagnosed. We hereby report a case of a 33-year-old male presenting with distal-onset muscle weakness with quadriceps muscle-sparing myopathy with proven genetic analysis and diagnosed as Nonaka myopathy. Diagnosis of GNE myopathy is based on clinical features and muscle pathology findings and is confirmed by the identification of mutations in the GNE gene. Though no specific treatment is available for this myopathy, early diagnosis helps in avoiding unnecessary interventions and prognostication for further progression.


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