Abstract
A 52 year old lady first developed impaired motor skills at the age of two, with progressive difficulty rising from the floor unaided. She became wheelchair-bound in her early teens and developed severe scoliosis. In her mid-20s she developed progressive bulbar weakness and ventilatory impairment requiring support. She continues to use non-invasive ventilatory support and PEG feeding. Neurophysiological studies confirm extensive neurogenic change and muscle biopsy shows a neurogenic picture with grouping of fibres by type and size.
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Reference
Mercuri E, Bertini E, Iannaccone ST. Childhood spinal muscular atrophy: controversies and challenges. Lancet Neurol. 2012;11:443–52.
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Howard, R. (2017). A Lady with Weakness Since Childhood. In: Manji, H., Turner, C., Evans, M. (eds) Neuromuscular Disease . Springer, London. https://doi.org/10.1007/978-1-4471-2389-7_16
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DOI: https://doi.org/10.1007/978-1-4471-2389-7_16
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