Case of Progressive Neuromuscular Syndrome and Loss of Muscle Control Over Thirteen Years: Genetic Analysis Provides Answers

Dr. Shefali Sabharanjak, Jeffy Kennison

Dr. Shefali Sabharanjak, Jeffy Kennison

Keywords: Neuromuscular, Genetic testing/analysis, GNE gene

Abstract

Neuromusculopathy is a condition which causes malfunction and deformity in the pathology of muscles. This case discusses in detail about a fit and healthy individual who reported progressive loss of control over skeletal muscles from the age of 27. The patient was advised genetic testing at the age of 43 years. He had
consulted doctors from India and US in the intervening years but no diagnosis was arrived at. Genetic analysis revealed that the patient harbours mutations in the GNE gene that resulted in the manifestation of muscle deterioration. Post-diagnosis, the patient has been provided with sialic acid supplements to overcome the
physiological deficits caused by the mutations in the GNE gene.

References

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