Long-term improvement of slow-channel congenital myasthenic syndrome with fluoxetine

• Published in: Neuromuscular disorders : NMD 2006-05, Vol.16 (5), p.329-333
• Main Authors: Colomer, J., Müller, J.S., Vernet, A., Nascimento, A., Pons, M., Gonzalez, V., Abicht, A., Lochmüller, H.
• Format: Article
• Language: English
• Subjects: Adolescent; Cholinesterase Inhibitors - adverse effects; Congenital myasthenia; DNA Mutational Analysis; Dose-Response Relationship, Drug; Drug Administration Schedule; Fluoxetine; Fluoxetine - administration & dosage; Genetic Predisposition to Disease - genetics; Humans; Male; Muscle, Skeletal - innervation; Muscle, Skeletal - pathology; Muscle, Skeletal - physiopathology; Mutation - genetics; Myasthenic Syndromes, Congenital - diagnosis; Myasthenic Syndromes, Congenital - drug therapy; Myasthenic Syndromes, Congenital - genetics; Neuromuscular Junction - drug effects; Neuromuscular Junction - metabolism; Neuromuscular Junction - physiopathology; Receptors, Cholinergic - drug effects; Receptors, Cholinergic - genetics; Receptors, Cholinergic - metabolism; Receptors, Nicotinic - genetics; Recovery of Function - drug effects; Recovery of Function - genetics; Serotonin Uptake Inhibitors - administration & dosage; Slow-channel syndrome; Time; Treatment Outcome
• ISSN: 0960-8966; 1873-2364
• DOI: 10.1016/j.nmd.2006.02.009

We report on a 15-year-old patient who was diagnosed with congenital myasthenic syndrome (CMS) at the age of 7 months. At initial diagnosis, the CMS was not further characterized. The patient was treated for several years with the anticholinesterase drug (Mestinon ®), without clinical benefit. The patient deteriorated progressively and became dependent on home nocturnal ventilatory support, being unable to take part in daily life activities at age of 12 years. At age 14, the slow-channel syndrome mutation CHRNE L269F (805C>T) was detected and acetylcholinesterase inhibitor therapy was immediately stopped. Fluoxetine therapy was started and gradually increased over 2 months. The boy improved dramatically in strength and endurance and was taken off ventilatory support 1 month after the fluoxetine therapy was initiated. The clinical improvement was confirmed by functional respiratory and electrophysiological tests.