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Distal lipid storage myopathy due to PNPLA2 mutation
Aya Ohkuma1, Ikuya Nonaka, May Christine V Malicdan
1Department of Neuromuscular Research, National Institute of Neuroscience, National Center of Neurology and Psychiatry, 4-1-1 Ogawahigashi-cho, Kodaira, Tokyo 187-8502, Japan.
Neuromuscular Disorders : NMD
|July 29, 2008
Summary
This study details a rare case of distal myopathy and dilated cardiomyopathy in a young man, linked to a PNPLA2 gene mutation. The findings highlight a genetic cause for this combined condition.
Area of Science:
- Genetics
- Cardiology
- Neuromuscular Disorders
Background:
- Distal myopathy is a group of muscle disorders affecting distal muscles, typically without cardiac involvement.
- Dilated cardiomyopathy is a heart condition characterized by enlargement and weakening of the left ventricle.
- Genetic mutations are increasingly recognized as causes for complex syndromic presentations.
Observation:
- A 27-year-old male presented with progressive muscle weakness in his lower legs and hands since age 20.
- Clinical examination revealed significant muscle atrophy and severe dilated cardiomyopathy.
- Pathological examination indicated lipid storage within muscle tissue.
Findings:
- Genetic analysis identified a homozygous four-base duplication (c.475_478dupCTCC) in exon 4 of the PNPLA2 gene.
- This mutation is associated with impaired function of the patatin-like phospholipase domain-containing protein 2.
- The genetic findings correlate with the observed clinical phenotype of distal myopathy and dilated cardiomyopathy.
Implications:
- This case expands the known clinical spectrum of PNPLA2 mutations.
- It underscores the importance of genetic testing in diagnosing rare myopathies with cardiac complications.
- Further research into PNPLA2 function may reveal therapeutic targets for related disorders.
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