How is duchenne diagnosed

Breathing problems and progressive enlargement of the heart may become life-threatening. Learning and memory issues cognitive impairment may occur in some cases, but do not worsen as DMD progresses.

Showing of 31 View All. Increased size of calf muscles. Disease of the heart muscle. Abnormality of cognition. Cognitive abnormality. Cognitive defects.

Cognitive deficits. Intellectual impairment. Mental impairment. Deficiency of speech development. Delayed language development. Delayed speech. Delayed speech acquisition. Delayed speech development. Impaired speech and language development. Impaired speech development. Language delay. Language delayed. Language development deficit. Late-onset speech development. Poor language development. Speech and language delay. Speech and language difficulties.

Speech delay. Elevated blood creatine phosphokinase. Elevated circulating creatine phosphokinase. Elevated creatine kinase. Elevated serum CPK. Elevated serum creatine phosphokinase. High serum creatine kinase. Increased CPK. Increased creatine kinase. Increased creatine phosphokinase. Increased serum CK. Increased serum creatine kinase. Increased serum creatine phosphokinase. Flexed joint that cannot be straightened. Weakness in muscles of upper arms and upper legs. Respiratory impairment.

Muscle degeneration. Muscle wasting. Waddling walk. Abnormal ECG. Abnormal heart rate. Heart rhythm disorders. Irregular heart beat. Irregular heartbeat. Symptoms begin in childhood. Cardiac failure. Cardiac failures. Heart failure. Stretched and thinned heart muscle. Decreased muscle tone. Low muscle tone. Prominent swayback. Decreased reflex response. Decreased reflexes. Slow breathing.

Under breathing. Mental retardation, borderline-mild. Mild and nonprogressive mental retardation. The two main groups in the United States are:. Our goal is to make Duchenne. By completing a 10 minute survey, you can help us learn what topics interest you most. Type in your search and hit return. Diagnosing Duchenne: does my child have Duchenne? To maximize time with your doctor use this downloadable list of questions. How is Duchenne diagnosed? Common steps many families experience include:.

Observing signs and symptoms. Blood tests to determine enzyme levels creatine kinase, or CK, test. Referral to a specialist. Genetic testing. Muscle Biopsy if needed. Creatine kinase typically leaks out of damaged muscle cells. Genetic testing : Examines individual genes to look for abnormalities known to cause Duchenne muscular dystrophy. Muscle biopsy: Examination of a small sample of muscle tissue to look for abnormalities. Imaging studies: Non-invasive testing, including CT scan and magnetic resonance imaging MRI , to look for abnormalities in the heart and other organs and to detect scoliosis abnormal curvature of the spine.

Electrocardiogram ECG : Non-invasive testing to check heart rhythm. Learn more about electrocardiogram. Previous Section Next Section. Clinical Trials Clinical trials are research studies that evaluate a new medical approach, device, drug, or other treatment. Open Trials Closed Trials. Neuromuscular Program We provide comprehensive diagnosis and care of common and rare neuromuscular disorders, including muscular dystrophies, myopathies, and neuropathies.

Clinical Trials. MyHealth Login. Financial Assistance. Therefore, electrocardiogram, noninvasive imaging with echocardiography, or cardiac MRI are essential, along with consultation with a cardiologist. Early in the diagnostic process, doctors often order a blood test called a CK level. CK stands for creatine kinase , an enzyme that leaks out of damaged muscle. When elevated CK levels are found in a blood sample, it usually means muscle is being disintegrated by some abnormal process, such as a muscular dystrophy or inflammation.

A very high CK level suggests that the muscles themselves and not the nerves that control them are the likely cause of the weakness, although it does not indicate exactly what type of muscle disorder might be occurring. Genetic testing involves analyzing the DNA of any cells usually blood cells are used to see whether there is a mutation in the dystrophin gene, and if so, exactly where it occurs.

Your MDA Care Center physician or genetic counselor can give you more information on testing options. And, for more on getting a definitive genetic diagnosis, see The Genie's Out of the Bottle: Genetic testing in the 21st century. Usually genetic diagnosis is indicated for patients with elevated serum CK levels and clinical findings of dystrophinopathy. Diagnosis is confirmed if a mutation of the DMD gene is identified.

Women who are DMD carriers can pass on the disease to their sons and their carrier status to their daughters. In a minority of cases, girls and women who are DMD carriers may themselves show symptoms of DMD, such as muscle weakness and heart problems.