Abstract
Childhood spinal muscular atrophy is an autosomal recessive neuromuscular disease characterized by degeneration of the anterior horn cells of the spinal cord. SMA type I or Werdnig-Hoffmann disease (WHD), the most severe form can be detected in utero or during the first months of life. Death typically occurs within the first 2 years of life. A 6-month old male was admitted to the emergency room for severe respiratory distress. He had generalised hypotonia, symmetrical proximal muscle weakness, areflexia, intercostal muscle weakness and tongue fasciculations. Molecular analysis reported homozygous deletion of exons 7 of I. It is imperative to recognize and diagnose this entity in order to provide genetic counselling to the family as well as to offer support and advice in the care of the patient.
Keywords: Autosomal recessive, degenerative disorder, areflexia, fasciculations, genetic conselling.
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Corresponding Author
Parveen Bhardwaj
DOI: https://dx.doi.org/10.18535/jmscr/v7i6.14
