Diagnosis at Mayo Clinic
Mayo Clinic doctors trained in nervous system conditions (neurology) and other doctors diagnose people who have congenital myopathies.
To diagnose your condition, your doctor will review your medical and family history. He or she will conduct a physical and a neurological examination to find the cause of your muscle weakness and rule out other conditions. Your doctor may conduct several tests to diagnose your congenital myopathy.
April 30, 2014
- Blood tests may be ordered to detect an enzyme called creatine kinase.
- Electrocardiogram (ECG). An electrocardiogram may be conducted to observe your heart's electrical activity.
- Electromyography (EMG). Electromyography measures electrical activity within muscles.
- Genetic testing may be recommended to verify a particular mutation.
- Muscle biopsy. A specialist may remove and examine a small sample of tissue (biopsy) from your muscle.
- Wang CH, et al. Consensus statement on standard care for congenital myopathies. Journal of Child Neurology. 2012;27:363.
- Bodamer OA, et al. Congenital myopathies. http://www.uptodate.com/home. Accessed Dec. 1, 2013.
- Dubowitz V, et al. Muscle Biopsy: A Practical Approach. 4th ed. Philadelphia, Pa.: Elsevier; 2013. http://www.clinicalkey.com. Accessed Dec. 1, 2013.
- Congenital myopathy information page. National Institute of Neurological Disorders and Stroke. http://www.ninds.nih.gov/disorders/myopathy_congenital/myopathy_congenital.htm. Accessed Dec. 1, 2013.
- Riggin EA. Decision Support System. Mayo Clinic, Rochester, Minn. Dec. 11, 2013.