Unlabelled: Congenital myasthenic syndromes (CMS) are neuromuscular transmission disorders caused by mutations in genes encoding neuromuscular junction proteins. A 61-year-old female and her older sister showed bilateral ptosis, facial and proximal limb weakness, and scoliosis since childhood. Another female sibling had milder signs, while other family members were asymptomatic. Facial nerve repetitive stimulation in the proband showed decrement of muscle responses. Single fiber EMG revealed increased jitter and blocking. Muscle biopsy showed type 2-fiber atrophy, without tubular aggregates. Mutational analysis in the three affected siblings revealed two compound heterozygous mutations in : c.1457delC, that predicts p.Pro486Argfs*13 and truncates the protein C-terminal domain, and c.473G>A, that predicts p.Arg158Gln and disruption of the dok7-MuSK interaction in the phosphotyrosine binding (PTB) domain. Unaffected family members carried only one or neither mutation.
Discussion: Two of the affected sisters showed marked improvement with salbutamol treatment, which illustrates the benefits of a correct diagnosis and treatment of DOK7-CMS.
Download full-text PDF |
Source |
|---|---|
| http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5658635 | PMC |
| http://dx.doi.org/10.4081/ejtm.2017.6832 | DOI Listing |
Publication Analysis
Top Keywords
Similar Publications
The Causality Spectrum of Dropped Head Syndrome is Broad and Includes Myopathy, Neurodegenerative Disorders, and Varia.
Noro Psikiyatr Ars
November 2024
Biochemistry Laboratory, LR12ES05 "Nutrition-Functional Foods and Vascular Health", Faculty of Medicine, Monastir, Tunisia.
Dropped head syndrome is a common complication of various neurological disorders. Most commonly, dropped head syndrome is due to primary or secondary myopathy. However, neurodegenerative diseases and various other conditions can also be complicated by dropped head syndrome.
View Article and Find Full Text PDFMutations in are responsible for postsynaptic congenital myasthenic syndromes (CMS) and occur either as slow-channel syndrome or fast-channel syndrome. Slow-channel CMS due to variants responds favorably to pyridostigmine. A patient with slow-channel CMS due to a new variant that responds favorably to 3,4-diaminopyridine (3,4-DAP) has not yet been reported.
View Article and Find Full Text PDFArticle Synopsis
- The Roma population, numbering between 10 to 14 million worldwide, faces unique genetic challenges due to a high level of consanguinity, resulting in specific hereditary diseases that are often underdiagnosed.
- Recent clinical evaluations at the ERN CRANIO center in Prague have highlighted various rare genetic disorders, including congenital cataract syndrome and non-syndromic deafness linked to specific genetic mutations.
- This study emphasizes the need for awareness and accurate diagnosis of dental issues that can aid in better treatment and management of these genetic conditions in the Czech Roma community.
Rituximab in Refractory Myasthenia Gravis - Challenges and Lessons Learnt.
Ann Indian Acad Neurol
November 2024
Department of Neurology, Sree Chitra Tirunal Institute for Medical Sciences and Technology, Thiruvananthapuram, Kerala, India.
Nearly 10%-15% patients with generalized myasthenia gravis (MG) have refractory disease and are candidates for newer nonconventional immunotherapies. Rituximab has emerged as an attractive option in them. We describe the efficacy and safety of rituximab in 12 patients with refractory MG treated over a period of 4 years in a tertiary care center.
View Article and Find Full Text PDFPhenotypic variability in congenital myasthenic syndrome with GFPT1 mutation.
Acta Neurol Belg
November 2024
Department of Neurology, Govind Ballabh Pant Postgraduate Institute of Medical Education and Research, G B Pant Hospital, Room No: 501, New Delhi, 110002, India.
Background: Congenital myasthenic syndrome (CMS) is phenotypically and genetically different from myasthenia gravis. CMS can present in adolescents and can be treatable. Genetic testing is helpful in diagnosis, and guides therapy, alleviating the need of muscle biopsy.
View Article and Find Full Text PDFWant AI Summaries of new PubMed Abstracts delivered to your In-box?
Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!