Abstract | INTRODUCTION: CASE REPORT: An 11-year-old girl with a limb-girdle phenotype of slow-channel congenital myasthenic syndrome presenting with a slowly progressive fatigable weakness at the age of 8 years. After a clinical worsening with pyridostigmine, empirically started before the exome sequencing results were available, a dramatic and sustained response to ephedrine monotherapy was observed. Whole exome sequencing revealed a de novo heterozygous mutation in CHRNB1 gene: c.865G>A; p.Val289Met (NM_000747.2). An abnormal decrement in amplitude (23.9%) from the first to fifth intravollley waveform was revealed after repetitive peroneal nerve stimulation at low frequencies. In addition, a second smaller compound muscle action potential after the peak of the main M-wave in median, ulnar and peroneal motor nerves was observed. CONCLUSION:
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Authors | J Eirís-Puñal, P Fuentes-Pita, C Gómez-Lado, L Pérez-Gay, A López-Vázquez, R Quintas-Rey, F Barros-Angueira, J Pardo |
Journal | Revista de neurologia
(Rev Neurol)
Vol. 71
Issue 6
Pg. 221-224
(Sep 16 2020)
ISSN: 1576-6578 [Electronic] Spain |
Vernacular Title | Respuesta clínica y neurofisiológica a la efedrina en un paciente con síndrome miasténico congénito de canal lento. |
PMID | 32895905
(Publication Type: Case Reports)
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Chemical References |
- CHRNB1 protein, human
- Receptors, Nicotinic
- Ephedrine
- Pyridostigmine Bromide
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Topics |
- Alleles
- Child
- Electromyography
- Ephedrine
(pharmacology, therapeutic use)
- Female
- Heterozygote
- Humans
- Muscle Weakness
(chemically induced)
- Mutation, Missense
- Myasthenic Syndromes, Congenital
(drug therapy, genetics, physiopathology)
- Phenotype
- Point Mutation
- Pyridostigmine Bromide
(adverse effects, therapeutic use)
- Receptors, Nicotinic
(genetics)
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