Case Reports
Limb-Girdle Muscular Dystrophy (LGMD) in Burkina Faso: About a Case of Dysferlinopathy LMGD 2B and Review of the Literature
Author(s):
Alfred Anselme Dabilgou*, Christian Napon, Alassane Drave, Julie Marie Adeline Kyelem, Z Kambire, Jean Kabore, Maroufou Jules ALAO, France Leturcq and Jon Andoni Urtizberea
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 bloo.. Read More»
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The Annals of Medical and Health Sciences Research is a monthly multidisciplinary medical journal.