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[Progressive spinal amyotrophy type I or Werdnig-Hoffman disease. Apropos of 5 cases in Dakar (Senegal)]

O Ndiaye1, G Sall, A Sylla

  • 1Service de pédiatrie, Hôpital Abass Ndao de Dakar, Université Cheikh Anta Diop de Dakar, Sénégal. oussoundiaye@aol.fr

Bulletin De La Societe De Pathologie Exotique (1990)
|July 31, 2002
PubMed

Insights

Type I spinal muscular atrophy (SMA), also known as Werdnig-Hoffman disease, is rarely documented in Black populations. This study highlights five pediatric cases diagnosed in Dakar, emphasizing SMA as a consideration for severe infantile hypotonia.

Area of Science:

  • Neurology
  • Genetics
  • Pediatrics

Context:

  • Type I spinal muscular atrophy (SMA), or Werdnig-Hoffman disease, is infrequently reported in individuals of Black African descent.
  • This study focuses on pediatric cases diagnosed in Dakar, Senegal.

Purpose:

  • To report on the occurrence and characteristics of Type I SMA in a Black African population.
  • To raise awareness of SMA as a potential diagnosis in infants presenting with severe hypotonia.

Summary:

  • Five cases of Type I SMA were diagnosed in a pediatric outpatient clinic in Dakar.
  • Patients presented with progressive hypotonia since birth, confirmed by electromyography showing peripheral nerve involvement without nerve conduction abnormalities.
  • The mean age of diagnosis was 12.3 months, with respiratory distress noted in two patients. Family history revealed similar symptoms in one case and consanguinity in two.

Impact:

  • This research underscores the importance of considering spinal muscular atrophy in the differential diagnosis of severe hypotonia in infants, irrespective of ethnicity.
  • It contributes to the limited literature on SMA prevalence and presentation in Sub-Saharan African populations.
  • Further research is needed to understand the genetic and environmental factors influencing SMA in diverse populations.

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