According to a story from Charcot-Marie-Tooth News, a recent study has revealed that patients with Charcot-Marie-Tooth disease (CMT) type 1A still display signs of muscle weakness even if they retain their ability to walk. The study identified forms of muscle weakness that had previously not been well studied in ambulatory patients. The original study was published in the Journal of the Peripheral Nervous System.
About Charcot-Marie-Tooth Disease
Charcot-Marie-Tooth disease is a hereditary disorder of the peripheral nervous system. It is most characterized by a progressive loss of touch sensation and muscle tissue in several different parts of the body. The cause of this disease is usually linked to a genetic mutation, but the mutation involved varies depending on the variant of Charcot-Marie-Tooth disease. There are multiple types of Charcot-Marie-Tooth disease, with all types aside from type 2 having a demyelinization effect. Type 2 causes damage to the neuronal axon instead. Symptoms include foot drop, muscle wasting (typically in the arms, legs, and hands), painful muscle spasms, loss of sensation in the limbs, scoliosis, trouble speaking, chewing, swallowing, and tremors. Treatment typically includes therapy and surgery in order to maintain function. There is no cure. The disease can occur early in life or as late as the 30s and 40s. To learn more about Charcot-Marie-Tooth disease, click here.
About The Study
A group of patients with type 1A Charcot-Marie-Tooth disease underwent a variety of tests to measure their muscle strength and nervous system response. Type 1A is the most common form of the disease. Many of these patients displayed reduced strength of the respiratory muscles and the diaphragm. Diaphragm weakness was associated with more extensive disease progression. Respiratory muscle weakness was linked with damage to the phrenic nerve. This nerve travels all the way from the neck to the diaphragm.
One goal of this study was to determine if dysfunction of the diaphragm occurred without weakness of the respiratory muscles; the findings appeared to indicate that the two signs are closely connected to one another. Ultimately, these signs are indicators of more severe disease progression and should be monitored closely by physicians.
