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Investigations :
• Creatine kinase (CK), also known as creatine phosphokinase (CPK) →
markedly elevated
• Electromyography ( EMG ) → myopathic pattern
• Muscle biopsy is diagnostic → muscle fiber degeneration with
replacement with fat and fibrosis.
• Prenatal diagnosis → amniocentesis or chorionic villous sampling →
genetic diagnosis
• Detection of female carrier → high serum creatine phosphokinase
(CPK).
Treatment :
No specific treatment.
Adequate nutrition, treatment of complications.
Treatment under trials: gene therapy, myoblast transfer.
Becker muscle dystrophy:
X- linked recessive disease of late onset during late childhood , slowly
progressive course and a longer time of survival → due to dysfunctioning
dystrophin or is insufficient production of dystrophin, a protein that helps
keep muscle cells intact
