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
Affiliations
Mohammed S. Alsallum
Neurology Resident, King Abdulaziz University Hospital, P.O. Box: 80200, 21589, Jeddah, Saudi Arabia; Corresponding author.
Aysha Alshareef
King Abdulaziz University, Faculty of Medicine, King Abdulaziz University Hospital, Internal Medicine Department, Neurology Division, P.O. Box: 80200, 21589, Jeddah, Saudi Arabia; Neuromuscular Unit, King Fahad Medical Research Center, King Abdulaziz University, Jeddah, Saudi Arabia
Ahmad R. Abuzinadah
King Abdulaziz University, Faculty of Medicine, King Abdulaziz University Hospital, Internal Medicine Department, Neurology Division, P.O. Box: 80200, 21589, Jeddah, Saudi Arabia; Neuromuscular Unit, King Fahad Medical Research Center, King Abdulaziz University, Jeddah, Saudi Arabia
Ahmed K. Bamaga
Neuromuscular Unit, King Fahad Medical Research Center, King Abdulaziz University, Jeddah, Saudi Arabia; King Abdulaziz University, Faculty of Medicine, King Abdulaziz University Hospital, Pediatric Department, Neurology Division, P.O. Box: 80200, 21589, Jeddah, Saudi Arabia
Ashraf Dallol
Center of Excellence in Genomic Medicine Research and Faculty of Applied Medical Sciences, King Abdulaziz University, P.O. Box: 80200, 21589, Saudi Arabia
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.
