[SMC] Congenital Myasthenic Syndrome Caused by DOK7 Mutation in a Quinquagenarian Male with Calf Hypertrophy

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J Clin Neuromuscul Dis. 2023 Sep 1;25(1):51-54. doi: 10.1097/CND.0000000000000448.

ABSTRACT

Congenital myasthenic syndromes (CMS) are relatively rare neurologic syndromes of defective neuromuscular transmission that stem from mutations in various proteins at the myoneural junction. Classically, the patients present within the first 2 years of life; however, the disease can also have onset in the second or third decade of life. The disease characteristically involves the skeletal muscles and spares smooth and cardiac muscles. The patients present with weakness involving ocular, limb, axial, or bulbar muscles. The specific diagnosis in most cases is clinched by genetic testing. We report a 59-year-old man presenting with neuromuscular weakness for 3 years and calf hypertrophy. He had myopathic features on electrophysiologic studies with a decremental response on repetitive nerve stimulation. Genetic testing confirmed a diagnosis of DOK7 CMS. He was managed with salbutamol and showed significant improvement.

PMID:37611271 | DOI:10.1097/CND.0000000000000448


Source: https://pubmed.ncbi.nlm.nih.gov/3761127 ... t6+86293ac