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In 1987 Summers et al 1 described a 14-year-old girl with neurogenic bulbospinal muscular atrophy and sensorineural deafness. They discussed the overlap of clinical features in Brown-Vialetto-Van Laere syndrome (BVVLS) and Madras motor neuron disease (MMND) described by Jagganathan.2 The patient was considered to have BVVLS and was among the first 20 cases described in the literature. At that time no diagnostic test was available but recently mutations in the riboflavin transporter genes have been identified in BVVLS and, indeed, there is hope that riboflavin therapy may be helpful.
Clinical background and follow-up
Twenty-eight years previously, a 14-year-old girl presented with a 2-year history of slowly progressive bulbospinal weakness associated with sensorineural deafness. Distal upper limb muscles were markedly wasted, the voice was nasal in quality, but the leg muscles were less involved. Ventilatory function was abnormal (forced vital capacity (FVC) 60% predicted) and there was slight oxygen desaturation in sleep. Since diagnosis she has been closely followed at the Royal London Hospital. She and her mother recently agreed to genetic testing. Screening of the SLC52A3 gene in the patient revealed heterozygous c.193C>T (Arg65Trp) mutation in exon 2 and heterozygous c.1238T>C (Val413Ala) mutation in exon 5. The patient's mother had …
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