Congenital Myasthenic Syndrome Caused by DOK7 Mutation in a Quinquagenarian Male with Calf Hypertrophy.

Abstract

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.

• Authors: Saranya B Gomathy, Animesh Das, Ajay Garg, Achal Kumar Srivastava
• Journal: Journal of clinical neuromuscular disease (J Clin Neuromuscul Dis) Vol. 25 Issue 1 Pg. 51-54 (Sep 01 2023) ISSN: 1537-1611 [Electronic] United States
• PMID: 37611271 (Publication Type: Case Reports, Journal Article)
• Copyright: Copyright © 2023 Wolters Kluwer Health, Inc. All rights reserved.

Chemical References

• DOK7 protein, human
• Muscle Proteins

Topics

• Humans
• Male
• Middle Aged
• Myasthenic Syndromes, Congenital (genetics)
• Mutation (genetics)
• Genetic Testing
• Muscle, Skeletal
• Hypertrophy
• Muscle Proteins (genetics)