A novel DOK7 mutation causing congenital myasthenic syndrome with limb-girdle weakness: case series of three family members

Mohammed S Alsallum; Aysha Alshareef; Ahmad R Abuzinadah; Ahmed K Bamaga; Ashraf Dallol

doi:10.1016/j.heliyon.2021.e06869

A novel DOK7 mutation causing congenital myasthenic syndrome with limb-girdle weakness: case series of three family members

Heliyon. 2021 May 7;7(5):e06869. doi: 10.1016/j.heliyon.2021.e06869. eCollection 2021 May.

Authors

Mohammed S Alsallum¹, Aysha Alshareef^{2

3}, Ahmad R Abuzinadah^{2

3}, Ahmed K Bamaga^{3

4}, Ashraf Dallol⁵

Affiliations

¹ Neurology Resident, King Abdulaziz University Hospital, P.O. Box: 80200, 21589, Jeddah, Saudi Arabia.
² King Abdulaziz University, Faculty of Medicine, King Abdulaziz University Hospital, Internal Medicine Department, Neurology Division, P.O. Box: 80200, 21589, Jeddah, Saudi Arabia.
³ Neuromuscular Unit, King Fahad Medical Research Center, King Abdulaziz University, Jeddah, Saudi Arabia.
⁴ King Abdulaziz University, Faculty of Medicine, King Abdulaziz University Hospital, Pediatric Department, Neurology Division, P.O. Box: 80200, 21589, Jeddah, Saudi Arabia.
⁵ Center of Excellence in Genomic Medicine Research and Faculty of Applied Medical Sciences, King Abdulaziz University, P.O. Box: 80200, 21589, Saudi Arabia.

Abstract

Congenital myasthenia syndrome (CMS) is a group of heterogeneous diseases affecting the neuromuscular endplate. CMS has a considerably different phenotypic presentations, with the onset time ranging from early infancy to late adulthood. Here, we report a case of a CMS due to a new DOK7 mutation in a 28-year-old man and two of his sisters, who have a pure limb-girdle weakness. DOK7 CMS has a varying presentation. Typically, the onset occurs in childhood with ptosis, bulbar symptoms, difficulty walking, weakness, and gait abnormality. This case sheds light on a novel DOK7 gene mutation with a unique presentation of CMS and provides insight into its unique phenotypic presentation.

Keywords: Congenital myasthenia syndrome; DOK7; Limb-girdle weakness; Sympathomimetics.

Publication types

Case Reports