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Results: 9

1.

Charcot-Marie-Tooth disease, type 4B1

Charcot-Marie-Tooth neuropathy type 4 (CMT4) is a group of progressive motor and sensory axonal and demyelinating neuropathies that are distinguished from other forms of CMT by autosomal recessive inheritance. Affected individuals have the typical CMT phenotype of distal muscle weakness and atrophy associated with sensory loss and, frequently, pes cavus foot deformity. [from GeneReviews]

MedGen UID:
321947
Concept ID:
C1832399
Disease or Syndrome
2.

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:
506330
Concept ID:
CN008687
Finding
3.

demyelinating neuropathy

MedGen UID:
82859
Concept ID:
C0270922
Disease or Syndrome
4.

Inborn genetic diseases

Diseases that are caused by genetic mutations present during embryo or fetal development, although they may be observed later in life. The mutations may be inherited from a parent's genome or they may be acquired in utero. [from MeSH]

MedGen UID:
181981
Concept ID:
C0950123
Disease or Syndrome
5.

Hereditary motor and sensory neuropathy

A group of slowly progressive inherited disorders affecting motor and sensory peripheral nerves. Subtypes include HMSNs I-VII. HMSN I and II both refer to CHARCOT-MARIE-TOOTH DISEASE. HMSN III refers to hypertrophic neuropathy of infancy. HMSN IV refers to REFSUM DISEASE. HMSN V refers to a condition marked by a hereditary motor and sensory neuropathy associated with spastic paraplegia (see SPASTIC PARAPLEGIA, HEREDITARY). HMSN VI refers to HMSN associated with an inherited optic atrophy (OPTIC ATROPHIES, HEREDITARY), and HMSN VII refers to HMSN associated with retinitis pigmentosa. (From Adams et al., Principles of Neurology, 6th ed, p1343) [from MeSH]

MedGen UID:
45066
Concept ID:
C0027888
Disease or Syndrome
6.

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
7.

Charcot-Marie-Tooth disease

Charcot-Marie-Tooth (CMT) hereditary neuropathy refers to a group of disorders characterized by a chronic motor and sensory polyneuropathy. The affected individual typically has distal muscle weakness and atrophy often associated with mild to moderate sensory loss, depressed tendon reflexes, and high-arched feet. [from GeneReviews]

MedGen UID:
2980
Concept ID:
C0007959
Disease or Syndrome
8.

Charcot-Marie-Tooth disease, demyelinating type

MedGen UID:
833707
Concept ID:
CN230013
Finding
9.

Distal hereditary motor neuronopathy type 1

Distal hereditary motor neuronopathy (dHMN or HMN) is a heterogeneous group of neuromuscular disorders caused by anterior horn cell degeneration and characterized by progressive distal motor weakness and muscular atrophy of the peripheral nervous system without sensory impairment. Distal HMN is also referred to as spinal Charcot-Marie-Tooth disease (spinal CMT). Distal HMN is often referred to as a 'neuronopathy' instead of a 'neuropathy' based on the hypothesis that the primary pathologic process resides in the neuron cell body and not in the axons (Irobi et al., 2006). Genetic Heterogeneity of Autosomal Dominant Distal Hereditary Motor Neuronopathy Harding (1993) proposed a classification of distal HMN into 7 phenotypic subtypes according to age at onset, mode of inheritance, and presence of additional features. Those that show autosomal dominant inheritance include distal HMN type I, and II (HMN2A, 158590 and HMN2B, 608634), characterized by juvenile and adult onset, respectively; HMN type V (HMN5A, 600794 and HMN5B, 614751), characterized by upper limb involvement; and HMN VII (HMN7A, 158580 and HMN7B, 607641), with vocal cord paralysis. HMN2A is caused by mutation in the HSPB8 gene (608014), HMN2B by mutation in the HSPB1 gene (602195), HMN2C (613376) by mutation in the HSPB3 gene (604624), and HMN2D (615575) by mutation in the FBXO38 gene (608533). HMN5A is caused by mutation in the GARS gene (600287) and HMN5B is caused by mutation in the REEP1 gene (609139). HMN7A is caused by mutation in the SLC5A7 gene (608761). HMN7B is caused by mutation in the DCTN1 gene (601143). See also autosomal dominant ALS4 (602433) and congenital autosomal dominant distal SMA (600175). Genetic Heterogeneity of Autosomal Recessive Distal Hereditary Motor Neuronopathy (Distal Spinal Muscular Atrophy) Harding (1993) classified autosomal recessive distal hereditary motor neuronopathy as dHMN IV (HMN4) and dHMN III (HMN3) (see DSMA3; 607088). HMN has also been referred to as distal spinal muscular atrophy (DSMA). 'Distal' SMA is distinguished from 'proximal' autosomal recessive spinal muscular atrophy (SMA, 253300) by the primary muscles involved. DSMA here refers to the autosomal recessive forms of HMN. See DSMA1 (SMARD1; 604320), caused by mutation in the IGHMBP2 gene (600502); DSMA2 (605726), which maps to chromosome 9p; DSMA3 (607088), encompassing HMN types III and IV, which maps to chromosome 11q13; DSMA4 (611067), caused by mutation in the PLEKHG5 gene (611101); and DSMA5 (614881), caused by mutation in the DNAJB2 gene (604139). See also X-linked SMAX3 (300489). [from OMIM]

MedGen UID:
356618
Concept ID:
C1866784
Disease or Syndrome

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