Neurogenic disease with high CK: think muscle.

Pract Neurol

NeuroMuscular Omnicentre (NeMO) Trento, Provincia autonoma di Trento Azienda Provinciale per i Servizi Sanitari, Trento, Italy.

Published: December 2024

AI Article Synopsis

  • HyperCKaemia, or elevated serum creatine kinase (CK), is frequently seen in various myopathies but can also occur in neurological disorders, making diagnosis challenging.
  • A case of a 58-year-old man illustrates the complexity, as he had a long history of muscle cramps and high CK levels, and was diagnosed with Charcot-Marie-Tooth disease type 1A through genetic testing.
  • Further genetic testing revealed a new variant related to dystrophinopathy, emphasizing the need to thoroughly investigate high CK levels in patients, even those with neurogenic disorders, to ensure proper monitoring for possible myopathy-related complications.

Article Abstract

HyperCKaemia is common in several myopathies but can accompany other disorders, including neuropathies. However, distinguishing neurogenic from myopathic hyperCKaemia is not always straightforward. A 58-year-old man had experienced muscle cramps and fatiguability since aged 3 years, with persistently high serum creatine kinase (CK). A positive family history prompted genetic testing for Charcot-Marie-Tooth disease type 1A, which was positive. However, his serum CK remained persistently high and neurological examination 17 years later identified diffuse muscle atrophy and weakness. Genetic testing for dystrophinopathy identified a novel missense variant on the gene. Patients whose serum CK is in 'myopathic range', even those with definite neurogenic disease, should be investigated for additional myopathy, since this may require additional monitoring for pulmonary and cardiac complications.

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Source
http://dx.doi.org/10.1136/pn-2024-004401DOI Listing

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