01
FIG4
No data
- Entity Type
- Diseases
- Relation Groups
- 1
- Relation Preview
- 8
Basic Information
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Core Information
- Disease Name
- Charcot-Marie-Tooth Disease
- Standard Disease Name
- charcot-marie-tooth disease
- MeSH Tree
- No data
- ICD-10
- G60.0
Identifiers
- DO ID
- No data
- MeSH ID
- D002607
- OMIM ID
- 118200
- UMLS ID
- C0007959
- HPO ID
- No data
Description and Extensions
- Description
- NCI2016_02D:An inherited degenerative disorder involving the peripheral nerves. It is caused by mutations in the genes that are responsible for the production of proteins necessary for the function and structure of the peripheral nerves. It is characterized by muscle atrophy and weakness in the feet, legs, hands, and arms and loss of sensation in the limbs.|MSH2017_2016_08_12:A hereditary motor and sensory neuropathy transmitted most often as an autosomal dominant trait and characterized by progressive distal wasting and loss of reflexes in the muscles of the legs (and occasionally involving the arms). Onset is usually in the second to fourth decade of life. This condition has been divided into two subtypes, hereditary motor and sensory neuropathy (HMSN) types I and II. HMSN I is associated with abnormal nerve conduction velocities and nerve hypertrophy, features not seen in HMSN II. (Adams et al., Principles of Neurology, 6th ed, p1343)|MEDLINEPLUS_20151021:<p>Charcot-Marie-Tooth disease (CMT) is a group of genetic nerve disorders. It is named after the three doctors who first identified it. In the United States, CMT affects about 1 in 2,500 people. </p> <p>CMT affects your <a href='https://www.nlm.nih.gov/medlineplus/peripheralnervedisorders.html'>peripheral nerves</a>. Peripheral nerves carry movement and sensation signals between the brain and spinal cord and the rest of the body. Symptoms usually start around the teen years. Foot problems such as high arches or hammertoes can be early symptoms. As CMT progresses, your lower legs may weaken. Later, your hands may also become weak. </p> <p>Doctors diagnose CMT by doing a neurologic exam, nerve tests, genetic tests, or a nerve biopsy. There is no cure. The disease can be so mild you don't realize you have it or severe enough to make you weak. Physical therapy, occupational therapy, braces and other devices and sometimes surgery can help.</p> <p >NIH: National Institute of Neurological Disorders and Stroke</p>|CHV2011_02:a progressive hereditary disorder that causes nerve damage|CHV2011_02:a progressive hereditary disorder that causes nerve damage|CHV2011_02:a progressive hereditary disorder that causes nerve damage|CHV2011_02:a progressive hereditary disorder that causes nerve damage|CHV2011_02:a progressive hereditary disorder that causes nerve damage
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