Diseases

Charcot-Marie-Tooth disease- Type 1A

Charcot-Marie-Tooth type 1A (Type 1A, CMT1A; OMIM: 118220; Orphanet:ORPHA101081) is the most common form of CMT, with an estimated prevalence of 1 in 5,000 it accounts for about 70% of all CMT type 1 cases and 57% of all CMT cases.

It is an inherited neurological disease characterized by the gradual degeneration of nerves which starts in the hands and feet and results in progressive numbness, muscle weakness and loss of function. Type 1A is inherited as an autosomal dominant pattern and involves the duplication of the PMP22 gene on chromosome 17.

Charcot-Marie-Tooth disease- Type 1B

CMT is an inherited neurological disease characterized by the gradual degeneration of nerves which starts in the hands and feet and results in progressive numbness, muscle weakness and loss of function. Type 1B is inherited as an autosomal dominant pattern and involves a defect in the MPZ gene on chromosome 1. The severity of the condition is variable depending on the age of onset with severe infantile cases resulting in the inability to walk at an early age.

Charcot-Marie-Tooth disease- Type 1C

CMT is an inherited neurological disease characterized by the gradual degeneration of nerves which starts in the hands and feet and results in progressive numbness, muscle weakness and loss of function. Type 1C is inherited as an autosomal dominant pattern and involves a defect in the LITAF/SIMPLE gene on chromosome 16.

Charcot-Marie-Tooth disease- Type 1E

Charcot-Marie-Tooth disease, Type 1E: CMT is an inherited neurological disease characterized by the gradual degeneration of nerves which starts in the hands and feet and results in progressive numbness, muscle weakness and loss of function. Type 1E involves the usual CMT symptoms as well as deafness.

Charcot-Marie-Tooth disease- Type 1F

Charcot-Marie-Tooth disease, Type 1F: CMT is an inherited neurological disease characterized by the gradual degeneration of nerves which starts in the hands and feet and results in progressive numbness, muscle weakness and loss of function. Type 1F is caused by a defect of a gene in chromosome 8 and involves the neurofilament light chain protein.

Charcot-Marie-Tooth disease- Type 2A

Charcot-Marie-Tooth disease, Type 2A: CMT is an inherited neurological disease characterized by the gradual degeneration of nerves which starts in the hands and feet and results in progressive numbness, muscle weakness and loss of function.

Charcot-Marie-Tooth disease- Type 2B

Charcot-Marie-Tooth disease, Type 2B: CMT is an inherited neurological disease characterized by the gradual degeneration of nerves which starts in the hands and feet and results in progressive numbness, muscle weakness and loss of function. Type 2B has an autosomal dominant inheritance and involves a defect in the gene for the protein RAB 7 located on chromosome 3.

Charcot-Marie-Tooth disease- Type 2B1

Charcot-Marie-Tooth disease, Type 2B1: CMT is an inherited neurological disease characterized by the gradual degeneration of nerves which starts in the hands and feet and results in progressive numbness, muscle weakness and loss of function. Type 2B1 has an autosomal dominant inheritance and involves a defect in the LMNA gene located on chromosome 1

Charcot-Marie-Tooth disease- Type 2B2

Charcot-Marie-Tooth disease, Type 2B2: CMT is an inherited neurological disease characterized by the gradual degeneration of nerves which starts in the hands and feet and results in progressive numbness, muscle weakness and loss of function. Type 2B2 has an autosomal dominant inheritance and involves a defect located on chromosome 19.

Charcot-Marie-Tooth disease- Type 2C

Charcot-Marie-Tooth disease, Type 2C: CMT is an inherited neurological disease characterized by the gradual degeneration of nerves which starts in the hands and feet and results in progressive numbness, muscle weakness and loss of function. Type 2C has an autosomal dominant inheritance and involves a defect in chromosome 12 and involves diaphragm and vocal cord weakness as well as hand and foot problems.

Charcot-Marie-Tooth disease- Type 2D

Charcot-Marie-Tooth disease, Type 2D: CMT is an inherited neurological disease characterized by the gradual degeneration of nerves which starts in the hands and feet and results in progressive numbness, muscle weakness and loss of function. Type 2D has an autosomal dominant inheritance and involves a defect in the glycyl RNA synthetase gene on chromosome 7p15. The hands tend to be more severely affected than the feet.

Charcot-Marie-Tooth disease- Type 2E

Charcot-Marie-Tooth disease, Type 2E: CMT is an inherited neurological disease characterized by the gradual degeneration of nerves which starts in the hands and feet and results in progressive numbness, muscle weakness and loss of function. Type 2C has an autosomal dominant inheritance and involves a defect in the neurofilament light gene on chromosome 8p21.

Charcot-Marie-Tooth disease- Type 2F

Charcot-Marie-Tooth disease, Type 2F: CMT is an inherited neurological disease characterized by the gradual degeneration of nerves which starts in the hands and feet and results in progressive numbness, muscle weakness and loss of function. Type 2F has an autosomal dominant inheritance and involves a defect in the HSPB1 gene on chromosome 7.

Charcot-Marie-Tooth disease- Type 2G

Charcot-Marie-Tooth disease, Type 2G: CMT is an inherited neurological disease characterized by the gradual degeneration of nerves which starts in the hands and feet and results in progressive numbness, muscle weakness and loss of function. Type 2G has an autosomal dominant inheritance and involves a defect on chromosome 12.

Charcot-Marie-Tooth disease- Type 2H

Charcot-Marie-Tooth disease, Type 2H: CMT is an inherited neurological disease characterized by the gradual degeneration of nerves which starts in the hands and feet and results in progressive numbness, muscle weakness and loss of function. Type 2H has an autosomal recessive inheritance and involves a defect in the GDAP1 gene on chromosome 8.

Charcot-Marie-Tooth disease- Type 2I

Charcot-Marie-Tooth disease, type 2: A rare inherited disorder characterized by abnormalities in the axon of the peripheral nerve cells instead of the myelin sheath coating of the nerves. The condition manifests as muscle weakness and wasting that usually starts in the legs and spreads to the hands and other parts of the body. The severity, age of onset and rate of progression of the condition varies depending on the genetic origin of the defect.

Charcot-Marie-Tooth disease- Type 2J

Charcot-Marie-Tooth disease, Type 2J: CMT is an inherited neurological disease characterized by the gradual degeneration of nerves which starts in the hands and feet and results in progressive numbness, muscle weakness and loss of function. Type 2J has an autosomal dominant inheritance and involves a defect on chromosome 1q22.

Charcot-Marie-Tooth disease- Type 2K

Charcot-Marie-Tooth disease, Type 2K: CMT is an inherited neurological disease characterized by the gradual degeneration of nerves which starts in the hands and feet and results in progressive numbness, muscle weakness and loss of function. Type 2K has an autosomal dominant inheritance and involves a defect on chromosome 8.

Charcot-Marie-Tooth disease- Type 4A

Charcot-Marie-Tooth disease, Type 4A: CMT is an inherited neurological disease characterized by the gradual degeneration of nerves which starts in the hands and feet and results in progressive numbness, muscle weakness and loss of function. Type 4A has an autosomal recessive inheritance and involves a defect in the GDAP 1 protein gene on chromosome 8. The recessive forms of CMT tend to be more severe than the dominant form and often involve hand and foot problems as well as additional systemic symptoms.

Charcot-Marie-Tooth disease- Type 4B1

Charcot-Marie-Tooth disease, Type 4B1: CMT is an inherited neurological disease characterized by the gradual degeneration of nerves which starts in the hands and feet and results in progressive numbness, muscle weakness and loss of function. Type 4B1 has an autosomal recessive inheritance and involves a defect in MTMR2 gene on chromosome 11.

Charcot-Marie-Tooth disease- Type 4B2

Charcot-Marie-Tooth disease (CMT), known also as Hereditary Motor and Sensory Neuropathy (HMSN), Hereditary Sensorimotor Neuropathy (HSMN), or Peroneal Muscular Atrophy, is a heterogeneous inherited disorder of nerves (neuropathy) that is characterized by loss of muscle tissue and touch sensation, predominantly in the feet and legs but also in the hands and arms in the advanced stages of disease. Presently incurable, this disease is one of the most common inherited neurological disorders, with 37 in 100,000 affected.

Charcot-Marie-Tooth disease- Type 4B2- with early-onset glaucoma

Charcot-Marie-Tooth disease, Type 4B2, with early-onset glaucoma: CMT is an inherited neurological disease characterized by the gradual degeneration of nerves which starts in the hands and feet and results in progressive numbness, muscle weakness and loss of function. This type is characterized by the involvement of glaucoma which starts during childhood.

Charcot-Marie-Tooth disease- Type 4C

Charcot-Marie-Tooth disease, Type 4C: CMT is an inherited neurological disease characterized by the gradual degeneration of nerves which starts in the hands and feet and results in progressive numbness, muscle weakness and loss of function. Type 4B2 has an autosomal recessive inheritance and involves a defect in the KIAA1985 gene on chromosome 5. It involves motor and sensory problems as well as scoliosis.

Charcot-Marie-Tooth disease- Type 4E

CMT is an inherited neurological disease characterized by the gradual degeneration of nerves which starts in the hands and feet and results in progressive numbness, muscle weakness and loss of function. Type 4B2 has an autosomal recessive inheritance and involves a defect in the EGR2 gene on chromosome 10

Charcot-Marie-Tooth disease- X-linked recessive- 2

CMT is an inherited neurological disease characterized by the gradual degeneration of nerves which starts in the hands and feet and results in progressive numbness, muscle weakness and loss of function. Type X2 is an inherited defect of the X chromosome and affects males to a greater degree than females.

Charcot-Marie-Tooth disease- X-linked recessive- 3

CMT is an inherited neurological disease characterized by the gradual degeneration of nerves which starts in the hands and feet and results in progressive numbness, muscle weakness and loss of function. Type 4X is an inherited defect of the X chromosome and affects males to a greater degree than females and also involves mental retardation and deafness.

Charcot-Marie-Tooth disease- X-linked- 1

X-Linked Charcot-Marie-Tooth disease is an inherited peripheral neuropathy arising in patients with mutations in the gene encoding connexin 32 (Cx32). Cx32 is expressed at the paranodes and Schmidt-Lantermann incisures of myelinating Schwann cells in which it is believed to form a reflexive pathway between the abaxonal and adaxonal cytoplasmic domains.