DYSTROPHIE MUSCULAIRE DE DUCHENNE PDF

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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Only comments seeking to improve the quality and accuracy of information on the Orphanet dysrrophie are accepted. For all other comments, please send your remarks via contact us.

Only comments written in English can be processed. 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 of Duchenne and Becker in female carriers; see this term. Onset occurs in early childhood, and affected boys may show 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. Musculaird ambulation is lost, joint contractures and scoliosis develop rapidly.

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Cardiomyopathy and respiratory dysrophie are the cause of death in young adulthood. Muscle damage is caused by the complete absence of the sarcolemmal protein dystrophin as a result of anomalies in the DMD gene Xp Diagnosis is suspected on the basis of the clinical picture, family history and laboratory findings serum creatine kinase is times the normal level.

Publications et maladie neuromusculaire – MFM

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 dystrophis testing. DMD is an X-linked recessive disease. Genetic counseling is very important: Multidisciplinary care is essential. Physiotherapy includes passive stretching and night time ankle-foot orthoses to reduce tendo-Achilles contractures. Treatment with corticosteroids prednisolone, prednisone or deflazacort is dystrophiee gold standard.

Corticosteroids should be introduced when the child’s motor skills plateau, usually between musculaird 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. Other search option s Alphabetical list. Summary and related texts.

dystrophie musculaire de Duchenne

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.

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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.

Médecine thérapeutique / Pédiatrie

Genetic counseling DMD is an X-linked recessive disease. Management and treatment Multidisciplinary care is essential.

Prognosis DMD has a severe prognosis musculaide 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.

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