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Case Reports
. 2023 Nov 9:46:78.
doi: 10.11604/pamj.2023.46.78.32240. eCollection 2023.

Spinal muscular atrophy in Ghanaian children confirmed by molecular genetic testing: a case series

Charles Kumi Hammond  1   2 , Emmanuel Oppong  2 , Emmanuel Ameyaw  1   2 , Joslin Alexei Dogbe  1   2
Affiliations
Case Reports

Spinal muscular atrophy in Ghanaian children confirmed by molecular genetic testing: a case series

Charles Kumi Hammond et al. Pan Afr Med J. .

Abstract

Spinal muscular atrophy (SMA) is an autosomal recessive inherited motor neuron disease characterized by progressive muscle weakness due to degeneration and loss of the anterior horn cells in the spinal cord and the brain stem nuclei from foetal life through infancy and childhood. SMA is prevalent in Ghanaian children, though not widely reported. Cases are likely missed or misdiagnosed due to lack of expertise and investigations. Newborn screening is not currently available in Ghana. The management remains supportive as newly approved genetic modifications therapies are currently not available. We present a retrospective folder review of children attending a tertiary pediatric neurology clinic who were diagnosed with SMA and confirmed by molecular genetic testing. Between January 2018 and August 2021, five (5) children from three families had molecular genetic tests confirming their diagnosis of SMA. Three (3) children had SMA I phenotype while 2 had SMA III phenotype. Two (2) of the 3 children with SMA I died from respiratory complications. The last surviving child with SMA I was diagnosed through newborn screening program overseas and received gene modification therapy. Careful history and physical examination remain the best approach to diagnosis as confirmatory genetic testing and supplemental investigations are not readily available. The current management of the children with SMA in Ghana include respiratory care, physiotherapy, and genetic counselling. Genetic modification therapies are currently not available.

Keywords: Spinal muscular atrophy; floppy infant; motor neuron disease; survival motor neuron.

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Conflict of interest statement

The authors declare no competing interest.

Figures

Figure 1
Figure 1
A,B) electrocardiogram for case 1 and case 5 showing baseline fibrillations
Figure 2
Figure 2
family pedigree of cases 3 and 4 showing the results of molecular genetic testing and the phenotype of all four children
See this image and copyright information in PMC

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