Diagnostic Difficulties of Duchenne Muscular Dystrophy in Madagascar

MBOLANIRINA LALA RAKOTOMAHEFA NARISON, ABA Ratsimbazafy, AL Rakotozanany, L. Ravelomanana, HS Raobijaona

Abstract


Duchenne muscular dystrophy is a rare genetic disease characterized by a deficiency of dystrophin. It is serious because of its functional impact, and secondarily vital. An observation in a boy of ten years of a clinical myogenic syndrome is reported. This condition involves a diffuse atrophy with predominantly proximal muscle weakness without sensory impairment. Serum creatine kinase is high. Rarefaction with unequal muscle fiber size was found on histological examination. On the occasion of this singular observation, the authors recall the main features of the disease and highlight the technical difficulties in diagnosis in Madagascar.


Keywords


Myopathy, Genetic, Creatine Kinase, Muscle Biopsy, Duchenne

Full Text:

PDF

References


Bouvenot G, Devulder B, Guillevin L, Queneau P, Schaeffer A. Pathologie médicale, Paris, Masson, 3ème édition, 1995, 342-343.

Haslett C, Chilvers ER, Hunter JAA, Boon NA. Médecine Interne, principes et pratiques, Maloine, 1999, 18, 999-1000.

Guibaud P, David L. Pédiatrie, Maladies métaboliques, maladies génétiques, pathologie osseuse, Simep, 1984, 4, 656-657.

Blau HM, Mattew LS. Molecular medecine – Muscle – mediated gene therapy. N Engl J Med European, 1995, 333, 1154-1156.

Cambier J, Masson M, Dehen H. Les affections musculaires primitives. In : Abrégés de Neurologie, Masson, 1994, 7, 567-572.

Soja ZN. Dystrophie musculaire progressive, description de trois cas et enquête familiale. Thèse de Médecine Antananarivo : Faculté de Médecine, 1996.

Cabanne F, Bonenfant JL. Les presses de l’université Laval, Maloine, 1987, 506.

Mahjoub S, Ayari M, Ben Dhia N, Bergaoui N. Mitral value prolapse in « female » Duchenne type dystrophy, Cœur Fra, 1989, 20, 5, 245-249.

Penn AS, Lisak RP, Rowland LP. Muscular dystrophy in young girls. Neurology ed Minneapolis, 1970, 20, 147-159.

Rideau Y. Traitement de la myopathie de Duchenne par physiothérapie précoce. Arch Fr Pédiatr, 1985, 42, 17-21.




DOI: http://dx.doi.org/10.52155/ijpsat.v19.1.1593

Refbacks

  • There are currently no refbacks.


Copyright (c) 2020 MBOLANIRINA LALA RAKOTOMAHEFA NARISON, ABA Ratsimbazafy, AL Rakotozanany, L. Ravelomanana, HS Raobijaona

Creative Commons License
This work is licensed under a Creative Commons Attribution 4.0 International License.