Dystrophies musculaires: Du Duchenne (DMD) au Becker (DMB). Volume 22 Physiopathologie de la dystrophie musculaire de Duchenne. Y. Péréon, S. Archives de pédiatrie – Vol. 22 – N° 12S1 – p. – Iconography: Physiopathologie de la dystrophie musculaire de Duchenne – EM|consulte. 4 janv. 3 études publiées coup sur coup le 31 décembre montrent que la technique d’édition génétique CRISPR pourrait permettre de soigner la.
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Duchenne muscular dystrophy
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Duchenne muscular dystrophy DMD is a neuromuscular disease characterized by rapidly progressive muscle weakness and wasting due to degeneration of skeletal, smooth and cardiac muscle. Females are usually asymptomatic but a small percentage of female carriers manifest milder forms of the disease symptomatic form of muscular dystrophy musculaige Duchenne and Becker in female carriers; see this term.
Onset occurs in early childhood, and affected boys may musculaige a delay in motor milestones or global developmental delay. Children with DMD generally never achieve the ability to run or jump. The condition progresses rapidly and the child develops a waddling gait and a positive Gower’s sign.
Climbing stairs becomes difficult and the child begins to fall frequently. Loss of independent ambulation occurs between the ages of 6 and 13 years, the average being 9. Once ambulation is lost, joint contractures and scoliosis develop rapidly.
Duchenne muscular dystrophy – Wikipedia
Cardiomyopathy and respiratory failure are the cause of death in young adulthood. Muscle damage is caused by the complete absence musculare the sarcolemmal protein dystrophin as a result of anomalies in the DMD gene Xp Diagnosis is suspected on ed basis of the clinical picture, family history and laboratory findings serum creatine kinase is times the normal level.
Muscle biopsy shows dystrophic features and there is a complete absence of the dystrophin protein. Differential diagnoses include severe Becker muscular dystrophy and the limb girdle muscular dystrophies see these terms. Antenatal diagnosis is possible for families in which the diagnosis has been confirmed by molecular testing. DMD is an X-linked recessive disease. Genetic musvulaire is very important: Multidisciplinary care is essential.
Physiotherapy includes passive stretching and night time ankle-foot orthoses to reduce tendo-Achilles contractures.
Treatment ee corticosteroids prednisolone, prednisone or deflazacort is the gold standard. Corticosteroids should be introduced when the child’s motor skills plateau, usually between years of age.
Complications of corticosteroid therapy must be managed and include: Regular cardiac monitoring is required to allow early treatment with ACE inhibitors. Surgery may be required for correction of the scoliosis and nocturnal BIPAP is beneficial for the treatment of restrictive respiratory failure. DMD has a severe prognosis and life expectancy is significantly reduced with death occurring in early adulthood.
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Médecine thérapeutique / Pédiatrie
Summary and related texts. Check this box if you wish to receive a copy of your message. Disease definition Duchenne muscular dystrophy DMD is a neuromuscular disease characterized by rapidly progressive muscle weakness and wasting due to degeneration of skeletal, smooth and cardiac muscle.
Clinical description Onset occurs in early childhood, and affected boys may show a delay in motor milestones or global developmental delay. Etiology Muscle damage is caused by the complete absence of the sarcolemmal protein dystrophin as a result of anomalies in the DMD gene Xp Diagnostic methods Diagnosis is suspected on the basis of the clinical picture, family history and laboratory findings serum creatine kinase is times the normal level.
Differential diagnosis Differential diagnoses include severe Becker muscular dystrophy and the limb girdle muscular dystrophies see these terms.
Genetic counseling DMD is an X-linked recessive disease. Management and treatment Multidisciplinary care xystrophie essential. Prognosis DMD has a severe dysrophie and life expectancy is significantly reduced with death occurring in early adulthood. Additional information Further information on this disease Classification s 4 Gene s 2 Clinical signs and symptoms Other website s Health care resources for this disease Expert centres Diagnostic tests Patient organisations 71 Orphan drug s Specialised Social Services Eurordis directory.
The documents contained in this web site are presented for information purposes only. The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment.