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Results: 9

1.

Charcot-Marie-Tooth disease, type IV

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:
432727
Concept ID:
CN043578
Disease or Syndrome
2.

Charcot-Marie-Tooth disease, type 4D

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:
371304
Concept ID:
C1832334
Disease or Syndrome
3.

Charcot-Marie-Tooth disease, type 4J

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:
370808
Concept ID:
C1970011
Disease or Syndrome
4.

Charcot-Marie-Tooth disease, type 4C

Charcot-Marie-Tooth neuropathy type 4C (CMT4C) is a demyelinating neuropathy characterized by early-onset severe spine deformities. The majority of affected children present with scoliosis or kyphoscoliosis between ages two and ten years, although earlier and later onset are observed. Slowly progressive neuropathy usually manifests in the first decade or adolescence, and occasionally earlier or later. Foot deformities (pes cavus, pes planus, or pes valgus) are common. [from GeneReviews]

MedGen UID:
356581
Concept ID:
C1866636
Disease or Syndrome
5.

Charcot-Marie-Tooth disease, type 4A

Charcot-Marie-Tooth neuropathy type 4A (CMT4A), an aggressive form of hereditary motor and sensory neuropathy (HMSN), is confined to the peripheral nervous system, and typically affects the lower extremities earlier and more severely than the upper extremities. As the neuropathy progresses, the distal upper extremities also become severely affected. Even proximal muscles can become weak. Age at onset is from infancy to early childhood. In most cases, disease progression causes disabilities within the first or second decade of life. At the end of the second decade, most individuals are wheelchair bound. Disease progression varies considerably even within the same family. The neuropathy can be either of the demyelinating type with reduced nerve conduction velocities or the axonal type with normal nerve conduction velocities. Vocal cord paresis is common. Intelligence is normal. Life expectancy is usually not affected, but on occasion may be reduced because of secondary complications. [from GeneReviews]

MedGen UID:
347821
Concept ID:
C1859198
Disease or Syndrome
6.

Charcot-Marie-Tooth disease, type 4B2

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:
346869
Concept ID:
C1858278
Disease or Syndrome
7.

Charcot-Marie-Tooth disease, type 4H

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:
324487
Concept ID:
C1836336
Disease or Syndrome
8.

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
9.

Congenital hypomyelinating neuropathy

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:
97965
Concept ID:
C0393818
Disease or Syndrome

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