Salbutamol benefits children with congenital myasthenic syndrome due to DOK7 mutations.

Journal article

Congenital myasthenic syndromes due to DOK7 mutations cause fatigable limb girdle weakness. Treatment with ephedrine improves muscle strength. Salbutamol, a β(2)-adrenergic receptor agonist with fewer side effects and more readily available, has been effective in adult and anecdotal childhood cases. This study reports the effects of salbutamol on motor function in childhood DOK7 congenital myasthenic syndrome. Nine children (age range 5.9-15.1years) were treated with oral salbutamol, 2-4mg TD...

Expand abstract

Authors: Burke, G; Hiscock, A; Klein, A; Niks, E; Main, M

• Publication status: Published
• Journal: Neuromuscular disorders : NMD
• Volume: 23
• Issue: 2
• Pages: 170-175
• Publication date: 2013-02-01
• DOI: 10.1016/j.nmd.2012.11.004
• EISSN: 1873-2364
• ISSN: 0960-8966
• Language: English
• Keywords: Retrospective Studies; Humans; Albuterol; Motor Activity; Muscle Proteins; Treatment Outcome; Female; Child; Male; Adolescent; Adrenergic beta-2 Receptor Agonists; Administration, Oral; Mutation; Child, Preschool; Myasthenic Syndromes, Congenital; Muscle Strength; Outcome Assessment (Health Care)