Logo Promisme

Charcot-Marie-Tooth Disease

ProMisMe

What is Charcot-Marie-Tooth Disease?

Charcot-Marie-Tooth disease (CMT) is a group of inherited neurological disorders that affect the peripheral nerves, which are responsible for transmitting information and signals between the central nervous system and the rest of the body. Named after the three physicians who first identified it, CMT is one of the most common inherited nerve disorders, affecting approximately 1 in 2,500 people worldwide.
ProMisMe

Symptoms and Impact

CMT is characterized by progressive muscle weakness and atrophy, primarily in the legs and feet, but it can also affect the hands and arms. Common symptoms include:
  • Foot deformities, such as high arches or flat feet
  • Muscle cramps and discomfort
  • Difficulty walking and balance problems
  • Loss of sensation in the extremities
The severity of symptoms can vary widely among individuals, even within the same family. While CMT is not typically life-threatening, it can significantly impact quality of life and daily functioning.
ProMisMe

The Role of PMP22 Mutations

One of the critical genetic factors in CMT is mutations in the PMP22 gene. PMP22 (Peripheral Myelin Protein 22) is a crucial component of the myelin sheath, the protective covering that surrounds nerves and ensures efficient transmission of nerve signals. Mutations in the PMP22 gene can disrupt the production and function of this protein, leading to the degeneration of myelin and impairing nerve signal transmission.
ProMisMe

Types of PMP22 Mutations

There are several types of PMP22 mutations associated with different forms of CMT:

Duplication

The most common PMP22 mutation involves the duplication of a segment of the gene, leading to Charcot-Marie-Tooth disease type 1A (CMT1A). This form is characterized by slowly progressive weakness and sensory loss.

Deletion

Deletions in the PMP22 gene can cause Hereditary Neuropathy with Liability to Pressure Palsies (HNPP), a condition where nerves are more susceptible to damage from pressure or repetitive movements.

Point Mutations

Specific changes in the DNA sequence of PMP22 can also cause various forms of CMT, with symptoms ranging from mild to severe.
ProMisMe

Advancing Research and Treatment

Research into CMT and PMP22 mutations is ongoing, with scientists striving to better understand the disease mechanisms and develop effective therapies. Advances in genetic engineering, biomolecular research, and synthetic biology offer promising avenues for discovering new treatments that can mitigate the impact of these genetic mutations.
CONTACT US
promisme logo final transparent
ProMisMe is funded by the “HORIZON TMA MSCA Postdoctoral Fellowships – European Fellowships” component of Horizon Europe Framework Programme (call Fostering balanced brain circulation “HORIZON-WIDERA-2022-TALENTS-04 – ERA Fellowships”), under Grant Agreement No. 101130862.

Useful Links

PMDs

Contact Info

unnamed 44s

2024 @ All Rights Reserved – Website made by Dot Sense