Abstract：
Werdnig-Hoffmann Disease: Report of the first case clinically identified and genetically confirmed in Central Africa (Kinshasa-Congo): Type 1 spinal muscular atrophy (SMA1) or Werdnig-Hoffman disease is rarely described in black populations. We report on one black patient diagnosed in Kinshasa. This patient was referred to Paediatric consultation at the age of 5 months 1/2 with extreme hypotonia progressing since birth, severe muscular weakness in his trunk and proximal parts of the extremities, ASD type II, and repeated episodes of pulmonary infections. He died of severe respiratory failure at the age of 10 months. EMG analysis revealed motor neuron a defect without nerve conduction anomaly, suggesting the diagnosis of spinal muscular atrophy disease. The diagnosis of SMA1 was definitely confirmed by a quantitative PCR-based testing that demonstrated homozygous deletion of SMN1, the primary disease-causing gene for spinal muscular atrophy, while two normal SMN2 alleles were present. There was a history of similar clinical symptomatology in a patient\'s older brother, suggesting a familial involvement. To the best of our knowledge, this is the first documented Werdnig-Hoffman case ever reported from Central Africa people.
摘要：
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