It is suggested these mitochondria clots make the synapses fail, resulting in charcot marie tooth disease.
The different classes of this disorder have been divided into the primary demyelinating neuropathies (charcot marie tooth 1, charcot marie tooth 3, and charcot marie tooth 4) and the primary axonal neuropathies (charcot marie tooth 2). The molecular structure of the nerve depends upon the interactions between neurons, schwann cells, and fibroblasts. Symptoms and progression of the disease can vary. A tremor can develop as muscles waste. Charcot marie tooth, also known as hereditary motor and sensory neuropathy (hmsn) or peroneal muscular atrophy, comprises a group of disorders that affect peripheral nerves. Disorders that affect the peripheral nerves are called peripheral neuropath the neuropathy of charcot marie tooth affects both motor and sensory nerves. Later in the disease, weakness and muscle atrophy may occur in the hands, resulting in difficulty with fine motor skills.
Although in rare cases patients may have respiratory muscle weakness, charcot marie tooth is not considered a fatal disease and people with most forms of charcot marie tooth have a normal life expectancy.
There are many forms of charcot marie tooth disease, including charcot marie tooth 1, charcot marie tooth 2, charcot marie tooth 3, charcot marie tooth 4, and charcot marie tooth x. Charcot marie tooth 1, caused by abnormalities in the myelin sheath, has three main types. Charcot marie tooth 1a is an autosomal dominant disease resulting from a duplication of the gene on chromosome 17 that carries the instructions for producing the peripheral myelin protein-22 (pmp-22). Patients experience weakness and atrophy of the muscles of the lower legs beginning in adolescence; later they experience hand weakness and sensory loss. Charcot marie tooth 2 results from abnormalities in the axon of the peripheral nerve cell rather than the myelin sheath.
Charcot marie tooth 3 or dejerine-sottas disease is a severe demyelinating neuropathy that begins in infancy. Infants have severe muscle atrophy, weakness, and sensory problems. This rare disorder can be caused by a specific point mutation in the p0 gene or a point mutation in the pmp-22 gene.
Charcot marie tooth 4 comprises several different subtypes of autosomal recessive demyelinating motor and sensory neuropathies. The gene abnormalities responsible for charcot marie tooth4 have yet to be identified.
Charcot marie tooth is caused by mutations in genes that produce proteins involved in the structure and function of either the peripheral nerve axon or the myelin sheath. Although different proteins are abnormal in different forms of charcot marie tooth disease, all of the mutations affect the normal function of the peripheral nerves. The degeneration of motor nerves results in muscle weakness and atrophy in the extremities (arms, legs, hands, or feet), and in some cases the degeneration of sensory nerves results in a reduced ability to feel heat, cold, and pain.
The gene mutations in charcot marie tooth disease are usually inherited. In rare cases the gene mutation causing charcot marie tooth disease is a new mutation which occurs spontaneously in the patient's genetic material and has not been passed down through the family.
Diagnosis of charcot marie tooth begins with a standard patient history, family history, and neurological examination. If charcot marie tooth is suspected, the physician may order electrodiagnostic tests for the patient. During nerve conduction studies, electrodes are placed on the skin over a peripheral motor or sensory nerve. Patients with charcot marie tooth 1 typically show signs of abnormal myelination. Patients with charcot marie tooth 2 usually show signs of axon degeneration.
Physical and occupational therapy, the preferred treatment for charcot marie tooth, involves muscle strength training, muscle and ligament stretching, stamina training, and moderate aerobic exercise. Many charcot marie teeth whitening patients require ankle braces and other orthopedic devices to maintain everyday mobility and prevent injury. Some charcot marie tooth patients may decide to have orthopedic surgery to reverse foot and joint deformities.
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