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The damages that are done to each different types of Charco-Marie-Tooth disease symptoms.
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This is info about the hereditary Charcot-Marie-Tooth disease symptoms
I have Charco-Marie-Tooth disease symptoms type 1
This page Explains what is damaged to cause nerve damage to the nerves in each type of Charco-Marie-Tooth disease symptoms and what genes are affected.
Scroll down the page to read about each type
What causes nerve damage and the genes affected in Charco-Marie-Tooth disease symptoms Type1
Charcot-Marie-Tooth disease Type 1 (CMT1) is primarily caused by mutations in genes that affect the peripheral nerves.
These mutations lead to problems with the production or maintenance of myelin, the protective covering of nerve fibers.
The most common genetic cause is a duplication of the PMP22 gene.
This abnormality disrupts the function of Schwann cells, which produce myelin, resulting in nerve damage and impaired signal transmission.
What causes nerve damage damage and the genes affected in Charco-Marie-Tooth disease symptoms type 2
Charcot-Marie-Tooth disease Type 2 (CMT2) primarily affects the peripheral nerves, causing damage to the axons, which are the long projections of nerve cells that transmit signals to muscles.
In CMT2, there is a specific involvement of the axon itself, leading to impaired nerve function and subsequent muscle weakness, particularly in the extremities.
Some of the genes associated with CMT type 2 include MFN2 (mitofusin 2), RAB7A (Ras-related protein Rab-7a), LITAF (lipopolysaccharide-induced TNF-alpha factor), and GARS (glycyl-tRNA synthetase), among others.
These genes play roles in the structure and function of peripheral nerves.
What causes nerve damage and the genes affected in Charco-Marie-Tooth disease symptoms Type 3
Charcot-Marie-Tooth disease (CMT) Type 3, also known as CMT3 or Dejerine-Sottas syndrome, is characterized by severe demyelination of peripheral nerves.
In this condition, the myelin sheath, which is the protective covering of nerve fibers, is damaged.
This demyelination leads to impaired nerve signal transmission and results in symptoms such as muscle weakness, sensory loss, and difficulty coordinating movements.
The damage primarily affects the peripheral nerves, which are responsible for communication between the central nervous system and the muscles in the extremities.
Charcot-Marie-Tooth disease type 3 (CMT3), also known as Dejerine-Sottas neuropathy, is primarily associated with mutations in the PMP22 gene.
PMP22 encodes a protein called peripheral myelin protein 22, and alterations in this gene can lead to demyelination of peripheral nerves, causing the symptoms characteristic of CMT3.
What causes nerve damage and the genes affected in Charco-Marie-Tooth disease symptoms type 4
Charcot-Marie-Tooth disease type 4 (CMT4) is a group of hereditary neuropathies that affect the peripheral nerves. In CMT4, mutations typically affect the myelin sheath, which is the protective covering around nerve fibers.
This demyelination impairs nerve signal transmission, leading to muscle weakness and sensory loss.
The specific genes involved in CMT4 can vary, but they generally play a role in the structure and function of myelin or the maintenance of nerve fibers.
Charcot-Marie-Tooth disease type 4 (CMT4) is a group of autosomal recessive inherited neuropathies.
It is caused by mutations in various genes, and several subtypes of CMT4 exist, each associated with mutations in different genes.
Some of the genes affected in CMT4 include GDAP1, SH3TC2, and others.
It's important to note that CMT4 is a genetically heterogeneous condition, meaning that mutations in different genes can lead to similar clinical manifestations.
Other pages about Charcot-Marie-Tooth disease symptoms
This page has links to different pages about the hereditary Charcot-Marie-Tooth disease symptoms, such as what Charco-Marie-Tooth disease symptoms are.
The Drs who founded the disease symptoms, where and when, what types of Charco-Marie-Tooth disease symptoms there are.
What myelin sheath is and what genes are affected. Click the blue link above to go to the page.
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