Congenital myasthenic syndromes (CMS) form a heterogeneous group of genetic diseases, characterized by a dysfunction of neuromuscular transmission. Multidimensional implications for rehabilitation are illustrated step by step with a case study.
Patient and methods
We describe a 28 month-old girl with a CMS due to a COLQ mutation. Retrospective chart review and in-depth interviews with the mother, guided by the ICF framework, were performed and translated into management following a principled bioethical framework.
Diagnosis was made shortly after birth, based on the presence of respiratory distress, hypotonia, oculobulbar weakness and a COLQ mutation in a sibling who died at 1 year of age. At presentation, she shows fluctuating respiratory distress and fatigue and uses noninvasive ventilation on demand. She has feeding difficulties and a language delay. She started to walk at 2 years. Rehabilitation goals were defined with a multidisciplinary team. Interviewing the mother brought to light a prominent fear of '˜losing her daughter'. Despite a supportive family network, she rarely involved her daughter in social activities. Her priorities lied in providing social participation, but only in a medically supervised context. Rehabilitation goals were reset to facilitate the articulation with the '˜real life' environment and empower the child and mother.
In this rare disease, with fluctuating disabling symptoms and unpredictable, potentially life-threatening disease course, realistic rehabilitation goal setting is challenging. The ICF approach aids in defining participation-oriented goals. Close involvement of caregivers is indispensable to align therapy goals, and empower the child outside the medical setting.