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A new report describes the case of a 63-year-old man diagnosed with an atypical, severe form of Charcot-Marie-Tooth disease type 2 (CMT2), with overlapping symptoms of the rarer CMT type 4. Genetic testing showed the man had the subtype CMT2K, caused by mutations in the GDAP1 gene, but with…

A rare mutation in the SOD1 gene helped doctors to diagnose a woman with Charcot-Marie-Tooth (CMT) disease, a study reports. Although SOD1 mutations are commonly associated with the neurodegenerative disease amyotrophic lateral sclerosis (ALS), clinical assessments confirmed a CMT diagnosis. Researchers hoped this report would raise awareness…

Novel parameters for MRI scans that measure the degree of muscle fat in specific regions of the legs showed a positive correlation with clinical indicators of disease severity and disability in people with Charcot-Marie-Tooth disease type 1A (CMT1A), a study reports. The findings suggest that these new MRI parameters…

A standardized tool called the Charcot–Marie–Tooth Examination Score (CMTES) help track disease progression in people with Charcot-Marie-Tooth disease (CMT) caused by mutations in the myelin protein zero (MPZ) gene, a study reports. It may also be useful for tracking the effectiveness of potential treatments in future clinical trials, researchers…

Moderate to severe anxiety, depression, and general distress affect up to 25% of people with Charcot-Marie-Tooth disease (CMT), according to data from an Italian national registry. Having a more severe disease correlated with experiencing moderate to severe depression and general distress. Nearly half of patients with mental health conditions…

Mutations in the SerRS gene — which is critical for protein production — were identified as the cause of Charcot-Marie-Tooth disease (CMT) in three families in China, a study reported. Researchers found that two newly-identified SerRS mutations likely acted to disrupt the process by which proteins are produced from…

Blocking the activity of a protein known as SARM1 — called an “executioner” by scientists — may be a useful strategy in Charcot-Marie-Tooth disease (CMT), according to a new study done in a rat model of CMT type 2A (CMT2A). According to researchers, such a strategy may prevent…

Note: This story was updated Nov. 4, 2022, to clarify the organizations associated with this particular initiative. The Hereditary Neuropathy Foundation (HNF) has relaunched its Global Registry for Inherited Neuropathies (GRIN), a database of people with Charcot–Marie–Tooth (CMT) disease or other inherited nerve damage disorders that’s now…

Note: This story was updated Oct. 21, 2022, to correct that the compounds being developed aim to restore autophagy in Schwann cells, not muscle cells. The CMT Research Foundation (CMTRF) has teamed up with …

A rare form of late-onset Charcot-Marie-Tooth disease type 2 (CMT2), caused by TFG gene mutations, is marked by the degeneration of nerve cell projections that include axons, a study suggested. The study also characterized the impact of a specific TFG mutation in a family, which indicated progressive lower-limb muscle…