University of Khartoum

Refinement of the Clinical Phenotype in Musk-Related Congenital Maysthenic Syndrome

Refinement of the Clinical Phenotype in Musk-Related Congenital Maysthenic Syndrome

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Title: Refinement of the Clinical Phenotype in Musk-Related Congenital Maysthenic Syndrome
Author: Mukhtar, Moawia M.; El-Sadig, SM; von der, Hagen M
Abstract: Congenital myasthenic syndromes (CMS) are a heterogeneous group of inherited disorders caused by genetic defects that affect transmission at the neuromuscular junction.1 To date, 10 genes are known to cause CMS if mutated.2 Mutations in the muscle specific kinase (MUSK) gene have been published in a single family worldwide.3 Two siblings of this family were reported carrying heteroallelic MUSK mutations. Case reports. We report on CMS caused by a novel homozygous missense mutation in MUSK in 5 affected sibs (patients 1–5) from a consanguineous Sudanese family. The father and the maternal grandmother are first-degree cousins. The patients were followed up for 5 years (ages at the end of follow-up: 9–19.5 years). All studies were carried out with informed consent of the patients’ parents and approved by the institutional ethics review board. All affected individuals demonstrated ptosis at age 1–3 years and fatigability, when walking for a long distance, more pronounced in the evening. At the first examination they had exercise-induced weakness of the deltoid muscle. Four of them had partial ophthalmoparesis (except patient 3). Patients 2 and 3 showed modified Gowers sign and waddling gait or pronounced lordosis, respectively. Treatment with pyridostigmine (30–60 mg/day) led to slight benefit. Increased doses were reported to result in the “feeling of muscle stiffness” and the medication was discontinued. Five years later (table), there was some progression, i.e., ophthalmoparesis in all, involving additional directions of gaze in patients 2 and 5 and mild facial weakness. Patient …
URI: http://khartoumspace.uofk.edu/123456789/17331
Date: 2015-11-29


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