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{
"count": 6723,
"next": "https://cinder.proteo.info/api/human_diseases/?format=api&limit=20&offset=5660&ordering=-synonyms",
"previous": "https://cinder.proteo.info/api/human_diseases/?format=api&limit=20&offset=5620&ordering=-synonyms",
"results": [
{
"identifier": "Charcot-Marie-Tooth disease, dominant intermediate B.",
"acronym": "CMTDIB.",
"accession": "DI-00264",
"synonyms": "Charcot-Marie-Tooth neuropathy dominant intermediate B.; CMTDI1.; DI-CMTB.; ",
"cross_references": "MeSH; D002607.",
"definition": "A form of Charcot-Marie-Tooth disease, a disorder of the peripheral nervous system, characterized by progressive weakness and atrophy, initially of the peroneal muscles and later of the distal muscles of the arms. The dominant intermediate type B is characterized by clinical and pathologic features intermediate between demyelinating and axonal peripheral neuropathies, and motor median nerve conduction velocities ranging from 25 to 45 m/sec. ",
"keywords": "KW-0144:Charcot-Marie-Tooth disease.; KW-0523:Neurodegeneration.; "
},
{
"identifier": "Charcot-Marie-Tooth disease, X-linked recessive, 4, with or without cerebellar ataxia.",
"acronym": "CMTX4.",
"accession": "DI-03693",
"synonyms": "Charcot-Marie-Tooth disease X-linked recessive 4.; Cowchock syndrome.; COWCK.; NADMR.; NAMSD.; ",
"cross_references": "MeSH; D008607.",
"definition": "A neuromuscular disorder characterized by progressive sensorimotor axonal neuropathy, distal sensory impairment, difficulty walking due to peripheral neuropathy and/or cerebellar ataxia, and deafness due to auditory neuropathy. Additional features include cognitive impairment, cerebellar atrophy, dysarthria, abnormal extraocular movements, tremor, dysmetria and spasticity. The age at onset ranges from infancy to young adulthood. ",
"keywords": "KW-0144:Charcot-Marie-Tooth disease.; KW-0209:Deafness.; KW-0523:Neurodegeneration.; KW-0991:Intellectual disability.; "
},
{
"identifier": "Neuropathy, congenital hypomyelinating, 1, autosomal recessive.",
"acronym": "CHN1.",
"accession": "DI-00358",
"synonyms": "Charcot-Marie-Tooth disease type 4E.; Charcot-Marie-Tooth neuropathy type 4E.; CMT4E.; Congenital amyelinating neuropathy.; Congenital hypomyelinating neuropathy autosomal recessive.; Neuropathy, congenital hypomyelinating or amyelinating.; Severe congenital hypomyelination.; ",
"cross_references": "MeSH; D002607.",
"definition": "A severe degenerating neuropathy that results from a congenital impairment in myelin formation. It is clinically characterized by early onset of hypotonia, areflexia, distal muscle weakness, and very slow nerve conduction velocities (as low as 3m/s). Some patients manifest nearly complete absence of spontaneous limb movements, respiratory distress at birth, and complete absence of myelin shown by electron microscopy of peripheral nerves. ",
"keywords": "KW-0144:Charcot-Marie-Tooth disease.; KW-0523:Neurodegeneration.; "
},
{
"identifier": "Neuronopathy, distal hereditary motor, autosomal dominant 2.",
"acronym": "HMND2.",
"accession": "DI-00400",
"synonyms": "Charcot-Marie-Tooth disease spinal IIA.; dHMN2A.; Distal hereditary motor neuropathy type IIA.; HMN2A.; HMN IIA.; Neuronopathy, distal hereditary motor, 2A.; Spinal muscular atrophy distal adult autosomal dominant IIA.; ",
"cross_references": "MeSH; D009134.",
"definition": "A form of distal hereditary motor neuronopathy, a heterogeneous group of neuromuscular disorders caused by selective degeneration of motor neurons in the anterior horn of the spinal cord, without sensory deficit in the posterior horn. The overall clinical picture consists of a classical distal muscular atrophy syndrome in the legs without clinical sensory loss. The disease starts with weakness and wasting of distal muscles of the anterior tibial and peroneal compartments of the legs. Later on, weakness and atrophy may expand to the proximal muscles of the lower limbs and/or to the distal upper limbs. ",
"keywords": "KW-0523:Neurodegeneration.; KW-0622:Neuropathy.; "
},
{
"identifier": "Charcot-Marie-Tooth disease, dominant intermediate G.",
"acronym": "CMTDIG.",
"accession": "DI-05208",
"synonyms": "Charcot-Marie-Tooth disease, dominant, intermediate type, G.; ",
"cross_references": "MeSH; D002607.",
"definition": "An autosomal dominant, intermediate form of Charcot-Marie-Tooth disease, a disorder of the peripheral nervous system, characterized by progressive weakness and atrophy, initially of the peroneal muscles and later of the distal muscles of the arms. Dominant intermediate forms are characterized by clinical and pathologic features intermediate between demyelinating and axonal peripheral neuropathies, and motor median nerve conduction velocities ranging from 25 to 45 m/sec. CMTDIG is phenotypically variable. Most affected individuals have onset in the first or second decades of slowly progressive distal motor weakness and atrophy, resulting in gait instability and distal upper limb impairment, as well as distal sensory impairment. ",
"keywords": "KW-0144:Charcot-Marie-Tooth disease.; KW-0523:Neurodegeneration.; "
},
{
"identifier": "Dejerine-Sottas syndrome.",
"acronym": "DSS.",
"accession": "DI-00387",
"synonyms": "Charcot-Marie-Tooth disease demyelinating type 4F.; Charcot-Marie-Tooth disease type 3.; Charcot-Marie-Tooth disease type 4F.; Charcot-Marie-Tooth neuropathy type 4F.; CMT4F.; Hereditary motor and sensory neuropathy III.; HMSN3.; HMSN III.; Hypertrophic neuropathy of Dejerine-Sottas.; ",
"cross_references": "MeSH; D015417.",
"definition": "A severe degenerating neuropathy of the demyelinating Charcot-Marie- Tooth disease category, with onset by age 2 years. Characterized by motor and sensory neuropathy with very slow nerve conduction velocities, increased cerebrospinal fluid protein concentrations, hypertrophic nerve changes, delayed age of walking as well as areflexia. There are both autosomal dominant and autosomal recessive forms of Dejerine-Sottas syndrome. ",
"keywords": "KW-0144:Charcot-Marie-Tooth disease.; KW-0213:Dejerine-Sottas syndrome.; KW-0523:Neurodegeneration.; "
},
{
"identifier": "Charcot-Marie-Tooth disease, demyelinating, 1J.",
"acronym": "CMT1J.",
"accession": "DI-06544",
"synonyms": "Charcot-Marie-Tooth disease, demyelinating, type 1J.; ",
"cross_references": "MeSH; D002607.",
"definition": "An autosomal dominant demyelinating form of Charcot-Marie-Tooth disease, a disorder of the peripheral nervous system, characterized by progressive weakness and atrophy, initially of the peroneal muscles and later of the distal muscles of the arms. Charcot-Marie-Tooth disease is classified in two main groups on the basis of electrophysiologic properties and histopathology: primary peripheral demyelinating neuropathies (designated CMT1 when they are dominantly inherited) and primary peripheral axonal neuropathies (CMT2). Demyelinating neuropathies are characterized by severely reduced nerve conduction velocities (less than 38 m/sec), segmental demyelination and remyelination with onion bulb formations on nerve biopsy, slowly progressive distal muscle atrophy and weakness, absent deep tendon reflexes, and hollow feet. ",
"keywords": "KW-0144:Charcot-Marie-Tooth disease.; KW-0523:Neurodegeneration.; "
},
{
"identifier": "Charcot-Marie-Tooth disease, demyelinating, 1I.",
"acronym": "CMT1I.",
"accession": "DI-06335",
"synonyms": "Charcot-Marie-Tooth disease, demyelinating, type 1I.; Charcot-Marie-Tooth neuropathy, type 1I.; ",
"cross_references": "MeSH; D002607.",
"definition": "An autosomal dominant demyelinating form of Charcot-Marie-Tooth disease, a disorder of the peripheral nervous system, characterized by progressive weakness and atrophy, initially of the peroneal muscles and later of the distal muscles of the arms. Charcot-Marie-Tooth disease is classified in two main groups on the basis of electrophysiologic properties and histopathology: primary peripheral demyelinating neuropathies (designated CMT1 when they are dominantly inherited) and primary peripheral axonal neuropathies (CMT2). Demyelinating neuropathies are characterized by severely reduced nerve conduction velocities (less than 38 m/sec), segmental demyelination and remyelination with onion bulb formations on nerve biopsy, slowly progressive distal muscle atrophy and weakness, absent deep tendon reflexes, and hollow feet. CMT1I is characterized predominantly by delayed motor development in the first years of life associated with gait abnormalities, sensory ataxia, hyporeflexia, and distal sensory impairment due to a sensorimotor peripheral neuropathy that mainly affects the lower limbs. The disorder is progressive, and some may have upper limb involvement. A subset of patients has central nervous system involvement that manifests as global developmental delay with impaired intellectual development and speech difficulties. ",
"keywords": "KW-0144:Charcot-Marie-Tooth disease.; KW-0523:Neurodegeneration.; "
},
{
"identifier": "Charcot-Marie-Tooth disease, demyelinating, 1H.",
"acronym": "CMT1H.",
"accession": "DI-06336",
"synonyms": "Charcot-Marie-Tooth disease, demyelinating, type 1H.; Charcot-Marie-Tooth neuropathy, type 1H.; Hereditary motor and sensory neuropathy, IH.; HNARMD.; Neuropathy, hereditary, with or without age-related macular degeneration.; ",
"cross_references": "MeSH; D002607.",
"definition": "An autosomal dominant demyelinating form of Charcot-Marie-Tooth disease, a disorder of the peripheral nervous system, characterized by progressive weakness and atrophy, initially of the peroneal muscles and later of the distal muscles of the arms. Charcot-Marie-Tooth disease is classified in two main groups on the basis of electrophysiologic properties and histopathology: primary peripheral demyelinating neuropathies (designated CMT1 when they are dominantly inherited) and primary peripheral axonal neuropathies (CMT2). Demyelinating neuropathies are characterized by severely reduced nerve conduction velocities (less than 38 m/sec), segmental demyelination and remyelination with onion bulb formations on nerve biopsy, slowly progressive distal muscle atrophy and weakness, absent deep tendon reflexes, and hollow feet. CMT1H is characterized by peripheral sensorimotor neuropathy with onset usually in adulthood. Affected individuals present with foot deformities, upper or lower limb sensory disturbances, and motor deficits, mainly impaired gait. Rare patients may have hyperelastic skin or develop age-related macular degeneration. ",
"keywords": "KW-0144:Charcot-Marie-Tooth disease.; KW-0523:Neurodegeneration.; "
},
{
"identifier": "Charcot-Marie-Tooth disease, demyelinating, 1G.",
"acronym": "CMT1G.",
"accession": "DI-05460",
"synonyms": "Charcot-Marie-Tooth disease, demyelinating, type 1G.; ",
"cross_references": "MeSH; D002607.",
"definition": "An autosomal dominant demyelinating form of Charcot-Marie-Tooth disease, a disorder of the peripheral nervous system, characterized by progressive weakness and atrophy, initially of the peroneal muscles and later of the distal muscles of the arms. Charcot-Marie-Tooth disease is classified in two main groups on the basis of electrophysiologic properties and histopathology: primary peripheral demyelinating neuropathies (designated CMT1 when they are dominantly inherited) and primary peripheral axonal neuropathies (CMT2). Demyelinating neuropathies are characterized by severely reduced nerve conduction velocities (less than 38 m/sec), segmental demyelination and remyelination with onion bulb formations on nerve biopsy, slowly progressive distal muscle atrophy and weakness, absent deep tendon reflexes, and hollow feet. CMT1G is characterized by distal muscle weakness and atrophy with onset in the first or second decade. ",
"keywords": "KW-0144:Charcot-Marie-Tooth disease.; KW-0523:Neurodegeneration.; "
},
{
"identifier": "Charcot-Marie-Tooth disease, demyelinating, 1F.",
"acronym": "CMT1F.",
"accession": "DI-00273",
"synonyms": "Charcot-Marie-Tooth disease demyelinating type 1F.; Charcot-Marie-Tooth neuropathy type 1F.; ",
"cross_references": "MeSH; D002607.",
"definition": "A dominant demyelinating form of Charcot-Marie-Tooth disease, a disorder of the peripheral nervous system, characterized by progressive weakness and atrophy, initially of the peroneal muscles and later of the distal muscles of the arms. Charcot-Marie-Tooth disease is classified in two main groups on the basis of electrophysiologic properties and histopathology: primary peripheral demyelinating neuropathies (designated CMT1 when they are dominantly inherited) and primary peripheral axonal neuropathies (CMT2). Demyelinating neuropathies are characterized by severely reduced nerve conduction velocities (less than 38 m/sec), segmental demyelination and remyelination with onion bulb formations on nerve biopsy, slowly progressive distal muscle atrophy and weakness, absent deep tendon reflexes, and hollow feet. CMT1F is characterized by onset in infancy or childhood (range 1 to 13 years). ",
"keywords": "KW-0144:Charcot-Marie-Tooth disease.; KW-0523:Neurodegeneration.; "
},
{
"identifier": "Charcot-Marie-Tooth disease, demyelinating, 1D.",
"acronym": "CMT1D.",
"accession": "DI-00271",
"synonyms": "Charcot-Marie-Tooth disease demyelinating type 1D.; Charcot-Marie-Tooth neuropathy type 1D.; Hereditary motor and sensory neuropathy ID.; HMSN1D.; HMSN ID.; ",
"cross_references": "MeSH; D015417.",
"definition": "A dominant demyelinating form of Charcot-Marie-Tooth disease, a disorder of the peripheral nervous system, characterized by progressive weakness and atrophy, initially of the peroneal muscles and later of the distal muscles of the arms. Charcot-Marie-Tooth disease is classified in two main groups on the basis of electrophysiologic properties and histopathology: primary peripheral demyelinating neuropathies (designated CMT1 when they are dominantly inherited) and primary peripheral axonal neuropathies (CMT2). Demyelinating neuropathies are characterized by severely reduced nerve conduction velocities (less than 38 m/sec), segmental demyelination and remyelination with onion bulb formations on nerve biopsy, slowly progressive distal muscle atrophy and weakness, absent deep tendon reflexes, and hollow feet. ",
"keywords": "KW-0144:Charcot-Marie-Tooth disease.; KW-0523:Neurodegeneration.; "
},
{
"identifier": "Charcot-Marie-Tooth disease, demyelinating, 1C.",
"acronym": "CMT1C.",
"accession": "DI-00270",
"synonyms": "Charcot-Marie-Tooth disease demyelinating type 1C.; Charcot-Marie-Tooth neuropathy type 1C.; Hereditary motor and sensory neuropathy IC.; HMSN1C.; HMSN IC.; ",
"cross_references": "MeSH; D015417.",
"definition": "A dominant demyelinating form of Charcot-Marie-Tooth disease, a disorder of the peripheral nervous system, characterized by progressive weakness and atrophy, initially of the peroneal muscles and later of the distal muscles of the arms. Charcot-Marie-Tooth disease is classified in two main groups on the basis of electrophysiologic properties and histopathology: primary peripheral demyelinating neuropathies (designated CMT1 when they are dominantly inherited) and primary peripheral axonal neuropathies (CMT2). Demyelinating neuropathies are characterized by severely reduced nerve conduction velocities (less than 38 m/sec), segmental demyelination and remyelination with onion bulb formations on nerve biopsy, slowly progressive distal muscle atrophy and weakness, absent deep tendon reflexes, and hollow feet. ",
"keywords": "KW-0144:Charcot-Marie-Tooth disease.; KW-0523:Neurodegeneration.; "
},
{
"identifier": "Charcot-Marie-Tooth disease, demyelinating, 1B.",
"acronym": "CMT1B.",
"accession": "DI-00269",
"synonyms": "Charcot-Marie-Tooth disease demyelinating type 1B.; Charcot-Marie-Tooth disease slow nerve conduction type linked to Duffy.; Charcot-Marie-Tooth neuropathy type 1B.; Hereditary motor and sensory neuropathy IB.; HMSN1B.; HMSN IB.; Peroneal muscular atrophy.; ",
"cross_references": "MeSH; D015417.",
"definition": "A dominant demyelinating form of Charcot-Marie-Tooth disease, a disorder of the peripheral nervous system, characterized by progressive weakness and atrophy, initially of the peroneal muscles and later of the distal muscles of the arms. Charcot-Marie-Tooth disease is classified in two main groups on the basis of electrophysiologic properties and histopathology: primary peripheral demyelinating neuropathies (designated CMT1 when they are dominantly inherited) and primary peripheral axonal neuropathies (CMT2). Demyelinating neuropathies are characterized by severely reduced nerve conduction velocities (less than 38 m/sec), segmental demyelination and remyelination with onion bulb formations on nerve biopsy, slowly progressive distal muscle atrophy and weakness, absent deep tendon reflexes, and hollow feet. ",
"keywords": "KW-0144:Charcot-Marie-Tooth disease.; KW-0523:Neurodegeneration.; "
},
{
"identifier": "Charcot-Marie-Tooth disease, demyelinating, 1A.",
"acronym": "CMT1A.",
"accession": "DI-00268",
"synonyms": "Charcot-Marie-Tooth disease demyelinating type 1A.; Charcot-Marie-Tooth disease slow nerve conduction type unlinked to Duffy.; Charcot-Marie-Tooth neuropathy type 1A.; Hereditary motor and sensory neuropathy IA.; HMSN1A.; HMSN IA.; ",
"cross_references": "MeSH; D015417.",
"definition": "A dominant demyelinating form of Charcot-Marie-Tooth disease, a disorder of the peripheral nervous system, characterized by progressive weakness and atrophy, initially of the peroneal muscles and later of the distal muscles of the arms. Charcot-Marie-Tooth disease is classified in two main groups on the basis of electrophysiologic properties and histopathology: primary peripheral demyelinating neuropathies (designated CMT1 when they are dominantly inherited) and primary peripheral axonal neuropathies (CMT2). Demyelinating neuropathies are characterized by severely reduced nerve conduction velocities (less than 38 m/sec), segmental demyelination and remyelination with onion bulb formations on nerve biopsy, slowly progressive distal muscle atrophy and weakness, absent deep tendon reflexes, and hollow feet. ",
"keywords": "KW-0144:Charcot-Marie-Tooth disease.; KW-0523:Neurodegeneration.; "
},
{
"identifier": "Charcot-Marie-Tooth disease 4K.",
"acronym": "CMT4K.",
"accession": "DI-04591",
"synonyms": "Charcot-Marie-Tooth disease, demyelinating, autosomal recessive, type 4K.; Charcot-Marie-Tooth disease, demyelinating, type 4K.; Charcot-Marie-Tooth neuropathy, demyelinating, autosomal recessive, type 4K.; Charcot-Marie-Tooth neuropathy, type 4K.; ",
"cross_references": "MeSH; D002607.",
"definition": "An autosomal recessive, demyelinating form of Charcot-Marie-Tooth disease, a disorder of the peripheral nervous system, characterized by progressive weakness and atrophy, initially of the peroneal muscles and later of the distal muscles of the arms. Charcot-Marie-Tooth disease is classified in two main groups on the basis of electrophysiologic properties and histopathology: primary peripheral demyelinating neuropathies (designated CMT1 when they are dominantly inherited) and primary peripheral axonal neuropathies (CMT2). Demyelinating neuropathies are characterized by severely reduced nerve conduction velocities (less than 38 m/sec), segmental demyelination and remyelination with onion bulb formations on nerve biopsy, slowly progressive distal muscle atrophy and weakness, absent deep tendon reflexes, and hollow feet. By convention autosomal recessive forms of demyelinating Charcot-Marie-Tooth disease are designated CMT4. CMT4K patients manifest upper and lower limbs involvement. Some affected individuals have nystagmus and late-onset cerebellar ataxia. ",
"keywords": "KW-0144:Charcot-Marie-Tooth disease.; KW-0523:Neurodegeneration.; "
},
{
"identifier": "Charcot-Marie-Tooth disease 4A.",
"acronym": "CMT4A.",
"accession": "DI-00285",
"synonyms": "Charcot-Marie-Tooth disease demyelinating autosomal recessive, type 4A.; Charcot-Marie-Tooth disease neuropathy type 4A.; ",
"cross_references": "MeSH; D002607.",
"definition": "A recessive demyelinating form of Charcot-Marie-Tooth disease, a disorder of the peripheral nervous system, characterized by progressive weakness and atrophy, initially of the peroneal muscles and later of the distal muscles of the arms. Charcot-Marie-Tooth disease is classified in two main groups on the basis of electrophysiologic properties and histopathology: primary peripheral demyelinating neuropathies (designated CMT1 when they are dominantly inherited) and primary peripheral axonal neuropathies (CMT2). Demyelinating neuropathies are characterized by severely reduced nerve conduction velocities (less than 38 m/sec), segmental demyelination and remyelination with onion bulb formations on nerve biopsy, slowly progressive distal muscle atrophy and weakness, absent deep tendon reflexes, and hollow feet. By convention autosomal recessive forms of demyelinating Charcot-Marie-Tooth disease are designated CMT4. CMT4A is a severe form characterized by early age of onset and rapid progression leading to inability to walk in late childhood or adolescence. ",
"keywords": "KW-0144:Charcot-Marie-Tooth disease.; KW-0523:Neurodegeneration.; "
},
{
"identifier": "Charcot-Marie-Tooth disease 4H.",
"acronym": "CMT4H.",
"accession": "DI-00290",
"synonyms": "Charcot-Marie-Tooth disease demyelinating autosomal recessive 4H.; Charcot-Marie-Tooth neuropathy type 4H.; ",
"cross_references": "MeSH; D002607.",
"definition": "A recessive demyelinating form of Charcot-Marie-Tooth disease, a disorder of the peripheral nervous system, characterized by progressive weakness and atrophy, initially of the peroneal muscles and later of the distal muscles of the arms. Charcot-Marie-Tooth disease is classified in two main groups on the basis of electrophysiologic properties and histopathology: primary peripheral demyelinating neuropathies (designated CMT1 when they are dominantly inherited) and primary peripheral axonal neuropathies (CMT2). Demyelinating neuropathies are characterized by severely reduced nerve conduction velocities (less than 38 m/sec), segmental demyelination and remyelination with onion bulb formations on nerve biopsy, slowly progressive distal muscle atrophy and weakness, absent deep tendon reflexes, and hollow feet. By convention autosomal recessive forms of demyelinating Charcot-Marie-Tooth disease are designated CMT4. ",
"keywords": "KW-0144:Charcot-Marie-Tooth disease.; KW-0523:Neurodegeneration.; "
},
{
"identifier": "Charcot-Marie-Tooth disease 4F.",
"acronym": "CMT4F.",
"accession": "DI-03559",
"synonyms": "Charcot-Marie-Tooth disease demyelinating autosomal recessive 4F.; Charcot-Marie-Tooth neuropathy type 4F.; ",
"cross_references": "MeSH; D015417.",
"definition": "A recessive demyelinating form of Charcot-Marie-Tooth disease, a disorder of the peripheral nervous system, characterized by progressive weakness and atrophy, initially of the peroneal muscles and later of the distal muscles of the arms. Charcot-Marie-Tooth disease is classified in two main groups on the basis of electrophysiologic properties and histopathology: primary peripheral demyelinating neuropathies (designated CMT1 when they are dominantly inherited) and primary peripheral axonal neuropathies (CMT2). Demyelinating neuropathies are characterized by severely reduced nerve conduction velocities (less than 38 m/sec), segmental demyelination and remyelination with onion bulb formations on nerve biopsy, slowly progressive distal muscle atrophy and weakness, absent deep tendon reflexes, and hollow feet. By convention autosomal recessive forms of demyelinating Charcot-Marie-Tooth disease are designated CMT4. CMT4F is characterized by distal sensory impairment and distal muscle weakness and atrophy affecting the lower more than the upper limbs. The age at onset is variable and can range from childhood to adult years. When the onset is in infancy, the phenotype is characterized as Dejerine-Sottas syndrome. ",
"keywords": "KW-0144:Charcot-Marie-Tooth disease.; KW-0523:Neurodegeneration.; "
},
{
"identifier": "Charcot-Marie-Tooth disease 4D.",
"acronym": "CMT4D.",
"accession": "DI-00289",
"synonyms": "Charcot-Marie-Tooth disease demyelinating autosomal recessive 4D.; Charcot-Marie-Tooth neuropathy type 4D.; Hereditary motor and sensory neuropathy IVD.; Hereditary motor and sensory neuropathy Lom type.; HMSN4D.; HMSN IVD.; HMSNL.; ",
"cross_references": "MeSH; D015417.",
"definition": "A recessive demyelinating form of Charcot-Marie-Tooth disease, a disorder of the peripheral nervous system, characterized by progressive weakness and atrophy, initially of the peroneal muscles and later of the distal muscles of the arms. Charcot-Marie-Tooth disease is classified in two main groups on the basis of electrophysiologic properties and histopathology: primary peripheral demyelinating neuropathies (designated CMT1 when they are dominantly inherited) and primary peripheral axonal neuropathies (CMT2). Demyelinating neuropathies are characterized by severely reduced nerve conduction velocities (less than 38 m/sec), segmental demyelination and remyelination with onion bulb formations on nerve biopsy, slowly progressive distal muscle atrophy and weakness, absent deep tendon reflexes, and hollow feet. By convention autosomal recessive forms of demyelinating Charcot-Marie-Tooth disease are designated CMT4. ",
"keywords": "KW-0144:Charcot-Marie-Tooth disease.; KW-0523:Neurodegeneration.; "
}
]
}