Objective: To describe clinical features of the first diagnosed case of dysferlinopathy in Burkina Faso. Clinical observation: This is a 33-year-old Burkinabe married patient, born from a non-consanguineous polygamous family of 37 children. Disease onset was when the patient was 24 years; he experienced weakness of the 2 lower limbs with gait disorders, balance and painful muscle cramps. There was apparent muscle weakness at a level of 3/5 in the proximal muscles on neurological examination; no weakness of the distal muscles, pathological reflex, or cranial findings. CK level was increased to 24,414 U/L (0-248). Echocardiography was found left ventricular hypertrophy. Muscle MRI of the shoulders, pelvis and limbs founded diffuse amyotrophy. Immuno-histo-chemestry in Italy revealed sarcoglycannopathy. Western blot from blood samples and genetics were performed in France and revealed dysferlinopathy. Since 2009, he was treated with corticosteroid the CK levels temporarily decreased to 7518 U/L in February 2014. Currently, at 6 years post disease onset, the patient is independent for daily life activities but needs a cane for walking long distances. Conclusion: Dysferinopathies are rare in Black African. In Burkina Faso, we observed one case and 4 non diagnosed cases in the same family.
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