X- Linked Infantile Spinal Muscular Atrophy (SMAX2) caused by novel c.1681G > A substitution in the UBA1 gene, expanding the phenotype

Classic autosomal recessive Spinal Muscular Atrophy (SMA) is a group of disorders characterised by progressive muscular paralysis and atrophy due to degeneration of the anterior horn cells in the spinal cord and motor nuclei in the lower brainstem. SMA results from homozygous deletions or mutations in the SMN1 gene on chromosome 5q13, which encodes the survival motor neuron protein 1 leading to destruction of the anterior horn cells [1]. Typical presentation is in the infantile period with areflexia, hypotonia, respiratory insufficiency and delayed motor milestones.

Source: Neuromuscular Disorders - November 13, 2019 Category: Neurology Authors: Niamh Shaughnessy, Eva B Forman, Declan O ’ Rourke, Sally Ann Lynch, Bryan Lynch Tags: Case report Source Type: research