Abstract | BACKGROUND:
Congenital myasthenic syndromes consist of rare disorders resulting from mutations in genes encoding for presynaptic, synaptic, and postsynaptic proteins that are involved in the signal transmission of the neuromuscular junction. They are characterized by fatigable weakness of the skeletal muscles with symptom onset from birth to early childhood. DOK7 (downstream of tyrosine kinase 7) congenital myasthenic syndrome was previously treated successfully with ephedrine and salbutamol; however, both are unavailable in the United States. METHODS: RESULTS: This report describes a boy who presented only with progressive limb-girdle muscle weakness since age 2 years. The muscle biopsy with extensive studies revealed no obvious etiologies. His muscle weakness rapidly worsened, requiring a wheelchair for daily activities. Expanded neuromuscular gene panel promptly led to the diagnosis of DOK7 congenital myasthenic syndrome, and his muscle strength dramatically and persistently improved in four weeks with albuterol treatment, allowing him to walk independently. In a brief literature review, 15 patients (five treated between ages 5 and 17 years) from the Mayo Clinic with DOK7 mutations were also successfully treated with albuterol. CONCLUSION:
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Authors | Chang-Yong Tsao |
Journal | Pediatric neurology
(Pediatr Neurol)
Vol. 54
Pg. 85-7
(Jan 2016)
ISSN: 1873-5150 [Electronic] United States |
PMID | 26552645
(Publication Type: Journal Article, Review)
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Copyright | Copyright © 2016 Elsevier Inc. All rights reserved. |
Chemical References |
- DOK7 protein, human
- Muscle Proteins
- Neuromuscular Agents
- Albuterol
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Topics |
- Albuterol
(therapeutic use)
- Child
- Humans
- Male
- Muscle Proteins
(genetics)
- Myasthenic Syndromes, Congenital
(drug therapy, genetics, physiopathology)
- Neuromuscular Agents
(therapeutic use)
- Treatment Outcome
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