Spinal Muscular Atrophy in the Black South African Population: A Matter of Rearrangement?

Spinal muscular atrophy (SMA) is a neuromuscular disorder, characterized by muscle atrophy and impaired mobility. A homozygous deletion of survival motor neuron 1 (), exon 7 is the main cause of SMA in ~94% of patients worldwide, but only accounts for 51% of South African (SA) black patients. and its highly homologous centromeric copy, survival motor neuron 2 (, are located in a complex duplicated region.

Efavirenz as a cause of ataxia in children.

Acute ataxia in childhood is often caused by toxin ingestion. With the increasing number of paediatric patients on antiretroviral medication, we are seeing more side-effects of these drugs. We report two cases of efavirenz toxicity causing ataxia.