Can a Diagnosis of CMT Disease Be Made From a Picture Alone?

Can a Diagnosis of CMT Disease Be Made From a Picture Alone?

If Charcot-Marie-Tooth disease is suspected following a neurological examination, physicians conduct electrodiagnostic and genetic testing to confirm the diagnosis. If those results are inconclusive, a nerve biopsy can confirm if the patient has Charcot-Marie-Tooth disease, according to the National Institute of Neurological Disorders and Stroke.

If a patient's personal and family medical history indicate possible Charcot-Marie-Tooth disease, a doctor checks the patient for orthopedic problems. During a neurological examination, the doctor looks for diminished reflexes, muscle weakness and sensory loss, the National Institute of Neurological Disorders and Stroke explains. Nerve conduction testing measures the strength and speed of electrical signals in the patient's skin, and electromyography measures electrical activity within muscles as the patient tenses and relaxes them.

Blood sample analysis can pinpoint genetic markers of the disease, reports Mayo Clinic. Following a nerve biopsy, examining the tissue sample under a microscope can reveal damage caused by Charcot-Marie-Tooth disease, according to the National Institute of Neurological Disorders and Stroke.