Key result
A 6-month-old male infant with severe respiratory distress and generalized hypotonia was diagnosed with Type I Spinal Muscular Atrophy, confirmed by homozygous deletion of exon 7 of the SMN1 gene.
Why the study?
It is imperative to recognize and diagnose spinal muscular atrophy type I to provide genetic counselling to the family and offer care support.
Case Report (n=1)
Highlights the clinical presentation of Werdnig-Hoffmann disease and the importance of early diagnosis for genetic counseling and supportive care.
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.
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Parveen Bhardwaj (2019) conducted a case report in Type I Spinal Muscular Atrophy (Werdnig-Hoffman Disease) (n=1). Type I Spinal Muscular Atrophy was evaluated on Clinical diagnosis and genetic confirmation. A 6-month-old male infant with severe respiratory distress and generalized hypotonia was diagnosed with Type I Spinal Muscular Atrophy, confirmed by homozygous deletion of exon 7 of the SMN1 gene.
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