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Items: 13

1.

Giant axonal neuropathy

Giant axonal neuropathy (GAN) is an early-onset fatal neurodegenerative disorder. GAN starts as severe peripheral motor and sensory neuropathy during infancy and evolves into central nervous system impairment (intellectual disability, seizures, cerebellar signs, and pyramidal tract signs). Most individuals become wheelchair dependent in the second decade of life and eventually bedridden with severe polyneuropathy, ataxia, and dementia. Death usually occurs in the third decade. [from GeneReviews]

MedGen UID:
376775
Concept ID:
C1850386
Disease or Syndrome
2.

Peripheral axonal neuropathy

An abnormality characterized by disruption of the normal functioning of peripheral axons. [from HPO]

MedGen UID:
266071
Concept ID:
C1263857
Disease or Syndrome
3.

Peripheral neuropathy

Peripheral neuropathy is a general term for any disorder of the peripheral nervous system. The main clinical features used to classify peripheral neuropathy are distribution, type (mainly demyelinating versus mainly axonal), duration, and course. [from HPO]

MedGen UID:
141046
Concept ID:
C0442874
Disease or Syndrome
4.

Axonal neuropathy

An abnormality characterized by disruption of the normal functioning of peripheral axons. [from HPO]

MedGen UID:
75729
Concept ID:
C0270921
Disease or Syndrome
5.

Neurologic

MedGen UID:
880863
Concept ID:
CN236425
Finding
6.

Thyroid hormone plasma membrane transport defect

MedGen UID:
396060
Concept ID:
C1861101
Disease or Syndrome
7.

Mild

Mild; asymptomatic or mild symptoms; clinical or diagnostic observations only; intervention not indicated. [from SNOMEDCT_US]

MedGen UID:
268697
Concept ID:
C1513302
Finding
8.

Polyneuropathy

A generalized disorder of peripheral nerves. [from HPO]

MedGen UID:
57502
Concept ID:
C0152025
Disease or Syndrome
9.

Peripheral neuropathy

Your peripheral nerves are the ones outside your brain and spinal cord. Like static on a telephone line, peripheral nerve disorders distort or interrupt the messages between the brain and the rest of the body. . There are more than 100 kinds of peripheral nerve disorders. They can affect one nerve or many nerves. Some are the result of other diseases, like diabetic nerve problems. Others, like Guillain-Barre syndrome, happen after a virus infection. Still others are from nerve compression, like carpal tunnel syndrome or thoracic outlet syndrome. In some cases, like complex regional pain syndrome and brachial plexus injuries, the problem begins after an injury. Some people are born with peripheral nerve disorders. Symptoms often start gradually, and then get worse. They include . - Numbness. - Pain. - Burning or tingling. - Muscle weakness. - Sensitivity to touch. Treatment aims to treat any underlying problem, reduce pain and control symptoms. NIH: National Institute of Neurological Disorders and Stroke.  [from MedlinePlus]

MedGen UID:
18386
Concept ID:
C0031117
Disease or Syndrome
10.

Neuromuscular Diseases

Neuromuscular disorders affect the nerves that control your voluntary muscles. Voluntary muscles are the ones you can control, like in your arms and legs. Your nerve cells, also called neurons, send the messages that control these muscles. When the neurons become unhealthy or die, communication between your nervous system and muscles breaks down. As a result, your muscles weaken and waste away. The weakness can lead to twitching, cramps, aches and pains, and joint and movement problems. Sometimes it also affects heart function and your ability to breathe. Examples of neuromuscular disorders include. -Amyotrophic lateral sclerosis. -Multiple sclerosis. -Myasthenia gravis. -Spinal muscular atrophy. Many neuromuscular diseases are genetic, which means they run in families or there is a mutation in your genes. Sometimes, an immune system disorder can cause them. Most of them have no cure. The goal of treatment is to improve symptoms, increase mobility and lengthen life.  [from MedlinePlus]

MedGen UID:
10323
Concept ID:
C0027868
Disease or Syndrome
11.

Charcot-Marie-Tooth disease type 2B2

Charcot-Marie-Tooth hereditary neuropathy type 2 (CMT2) is an axonal (non-demyelinating) peripheral neuropathy characterized by distal muscle weakness and atrophy, mild sensory loss, and normal or near-normal nerve conduction velocities. CMT2 is clinically similar to CMT1, although typically less severe. Peripheral nerves are not enlarged or hypertrophic. The subtypes of CMT2 are similar clinically and distinguished only by molecular genetic findings. [from GeneReviews]

MedGen UID:
381352
Concept ID:
C1854150
Disease or Syndrome
12.

Charcot-Marie-Tooth disease type 2B1

Charcot-Marie-Tooth hereditary neuropathy type 2 (CMT2) is an axonal (non-demyelinating) peripheral neuropathy characterized by distal muscle weakness and atrophy, mild sensory loss, and normal or near-normal nerve conduction velocities. CMT2 is clinically similar to CMT1, although typically less severe. Peripheral nerves are not enlarged or hypertrophic. The subtypes of CMT2 are similar clinically and distinguished only by molecular genetic findings. [from GeneReviews]

MedGen UID:
343064
Concept ID:
C1854154
Disease or Syndrome
13.

Charcot-Marie-Tooth disease type 2H

Charcot-Marie-Tooth hereditary neuropathy type 2 (CMT2) is an axonal (non-demyelinating) peripheral neuropathy characterized by distal muscle weakness and atrophy, mild sensory loss, and normal or near-normal nerve conduction velocities. CMT2 is clinically similar to CMT1, although typically less severe. Peripheral nerves are not enlarged or hypertrophic. The subtypes of CMT2 are similar clinically and distinguished only by molecular genetic findings. [from GeneReviews]

MedGen UID:
334344
Concept ID:
C1843173
Disease or Syndrome
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