What question did this study set out to answer?

This case report aims to discuss the diagnosis and management challenges of mild nemaline myopathy in a young athlete.

May 7, 2026Indian Journal of Physical Medicine and Rehabilitation0 citationsOpen Access

A Rare Case of Mild Nemaline Myopathy in an 11-year-old Male Athlete: Challenges in Diagnosis and Physical Activity Management

SSSagolsem Adarsh SinghRegional Institute of Medical Sciences ASAkoijam Joy SinghRegional Institute of Medical Sciences

Key Points

This case report aims to discuss the diagnosis and management challenges of mild nemaline myopathy in a young athlete.
Presented a case of an 11-year-old male athlete
Conducted whole exome sequencing to identify genetic variants
Examined implications for physical activity and rehabilitation
Identified compound heterozygous pathogenic variants in nebulin gene
Confirmed diagnosis of autosomal recessive nemaline myopathy type 2
Noted a positive family history with a milder phenotype in the patient's sister

Abstract

Abstract Nemaline myopathy (NM) is a rare congenital neuromuscular disorder characterised by muscle weakness and the presence of nemaline bodies in muscle fibres. We present a case of an 11-year-old male with mild, non-progressive lower limb muscle weakness, incidentally detected during a routine check-up. Whole exome sequencing identified compound heterozygous pathogenic variants in the nebulin gene (c.9046C>T, p.Arg3016* and c.21417+3A>G), confirming the diagnosis of autosomal recessive NM Type 2. A positive family history in his sister with a milder phenotype was noted. This report highlights the diagnostic approach, genetic considerations and implications for physical activity and rehabilitation in a paediatric patient with a mild phenotype of NM.

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