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When symptoms suggestive of Duchenne Muscular Dystrophy (DMD) are observed in infants or children, a specialist physician will initiate the diagnostic process with a comprehensive physical examination, followed by a neurological and muscle assessment. After gathering detailed information about the child's symptoms and medical history, the following diagnostic tests may be requested:
Creatine Kinase (CK) Blood Test: Elevated levels of creatine kinase, an enzyme released when muscle tissue is damaged, can indicate DMD. CK levels typically rise significantly, often reaching 10 to 20 times the normal range, usually peaking by the age of two.
Genetic Blood Test: This test specifically screens for the absence or mutation of the dystrophin gene, which is a definitive indicator of DMD.
Muscle Biopsy: A small tissue sample may be taken from the thigh or calf muscle. Microscopic examination of this sample can confirm the presence of DMD.
Electrocardiogram (ECG): As DMD can affect heart muscle function, an ECG is often requested to assess the child's cardiac health and identify any signs of DMD-related cardiomyopathy.
How is DMD Disease Diagnosed?
Creatine Kinase (CK) Blood Test: Elevated levels of creatine kinase, an enzyme released when muscle tissue is damaged, can indicate DMD. CK levels typically rise significantly, often reaching 10 to 20 times the normal range, usually peaking by the age of two.
Genetic Blood Test: This test specifically screens for the absence or mutation of the dystrophin gene, which is a definitive indicator of DMD.
Muscle Biopsy: A small tissue sample may be taken from the thigh or calf muscle. Microscopic examination of this sample can confirm the presence of DMD.
Electrocardiogram (ECG): As DMD can affect heart muscle function, an ECG is often requested to assess the child's cardiac health and identify any signs of DMD-related cardiomyopathy.