Journal article

Autosomal dominant congenital spinal muscular atrophy - A possible developmental deficiency of motor neurones?

S Reddel, RA Ouvrier, G Nicholson, I Dierick, J Irobi, V Timmerman, MM Ryan

Neuromuscular Disorders | PERGAMON-ELSEVIER SCIENCE LTD | Published : 2008

Abstract

We describe a kindred with an unusual congenital lower motor neuron disorder with significant but static muscle weakness predominantly affecting the lower limbs. The proband had talipes equinovarus and congenital hip contractures and did not walk until 19 months of age. Lower-extremity predominant, primarily proximal weakness was identified on assessment at three years. Over a 20 year follow-up there has been no clinical progression. The proband has a four-year-old daughter with very similar clinical findings. Electromyography and muscle biopsy suggest reduced numbers of giant normal duration motor units with little evidence of denervation or reinnervation. Dominant congenital spinal muscula..

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