Clinical features (contd)
The child cannot climb stairs or rise from a low chair, and when attempting to rise from the ground will 'climb up himself - Gower's sign (not diagnostic of the condition, but indicative of pelvic muscle weakness).
Pseudohypertrophy occurs in 80% of cases. The gastrocnemius commonly is enlarged and rubbery hard Quadriceps/deltoid and tongue likewise may be affected.
Mean IQ is 15-20 points lower than in the normal population; occasionally severe mental handicap may occur.
Between 7-12 years - child is no longer able to walk and weakness spreads distally in the limbs.
Kyphoscoliosis with respiratory distress and cardiac muscle involvement.
Aged 20 years - chest infection, cardiac failure and arrhythmias occur with severe muscle contractures. The patient by now is bedbound. Survival is rare beyond mid-20s.
Muscle enzyme - creatine kinase - is substantially elevated (several thousand units) especially in early stages. The enzyme is raised at birth and is significantly elevated in the female carrier aiding detection of this state and genetic counselling. Electrocardiogram is abnormal in 80% with conduction abnormalities and rhythm disorders.
Electromyographic (EMG) studies will support the diagnosis and may be important in doubtful early cases with no family history, i.e. spontaneous mutation. EMG studies do not detect carrier states.
Muscle biopsy: the failure to detect dystrophin establishes the diagnosis beyond doubt. Treatment
There is no effective treatment. Orthopaedic procedures such as tenotomy may prolong mobility. Steroids may marginally slow decline and increase muscle mass. Myoblast transfer studies are disappointing. Detection of the carrier state and advice are essential as preventive treatment. Intra-uterine diagnosis can be made and termination offered.
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