[…] level: Disorder Synonym(s): CMT4J Prevalence: 1 / 1 000 000 Inheritance: Autosomal recessive Age of onset: Infancy, Childhood, Adult ICD-10: G60.0 OMIM: 611228 UMLS: C1970011 MeSH: - GARD: 12443 MedDRA: - The documents contained in this web site are presented [orpha.net]

Adult-onset CMT4J can present with a more variable disease course. No prospective natural history study for CMT4J has been reported. [clinicaltrials.gov]

CMT4J may present either as an early and severe, or a late onset and more slowly progressive disease. [ncbi.nlm.nih.gov]

Autosomal recessive demyelinating CMT4 patients present with earlyonset and slowly progressing symptoms. These include progressive distally accentuated weakness and atrophy of muscles in the lower limbs. [hnf-cure.org]

The majority of affected children present with scoliosis (curvature of the spine) between ages 2 and 10 years. Slow, progressive CMT symptoms such as muscle weakness and numbness usually manifest in the first decade or at adolescence. [charcot-marie-toothnews.com]

• Weakness

  Charcot-Marie-Tooth disease type 4 characterized by childhood- to adulthood-onset of variably severe, rapidly progressive, axonal and demyelinating sensorimotor neuropathy typically manifesting with delayed motor development, proximal and distal asymmetric muscle weakness [orpha.net]

  Overwhelming fatigue Grooved tongue (with deep fissures, cracks, and grooves) Respiratory compromise or muscle weakness leading to respiratory infections Numbness and tingling or pain in hands and feet Uneven weakness in proximal musclesMuscles that are [livingcmt4j.com]

  Pediatric-onset disease can often be characterized by rapid progression of muscle weakness and atrophy, culminating in loss of ambulation and respiratory compromise and premature death. [clinicaltrials.gov]

  [from NCI] Show allHide all Abnormality of limbs Ankle contracture Abnormality of the musculoskeletal system Ankle contracture Distal arthrogryposis Distal muscle weakness Frequent falls Abnormality of the nervous system Areflexia Axonal loss Decreased [ncbi.nlm.nih.gov]

  Symptoms CMT4 causes muscle weakness, mostly in the distal muscles (those far from the center of the body), but sometimes also in proximal muscles (those close to the center of the body). [charcot-marie-toothnews.com]

• Muscle Weakness

  weakness and atrophy of the lower and upper extremities, severe motor dysfunction with mildly reduced sensory impairment, and areflexia. [orpha.net]

  Pediatric-onset disease can often be characterized by rapid progression of muscle weakness and atrophy, culminating in loss of ambulation and respiratory compromise and premature death. [clinicaltrials.gov]

  [from NCI] Show allHide all Abnormality of limbs Ankle contracture Abnormality of the musculoskeletal system Ankle contracture Distal arthrogryposis Distal muscle weakness Frequent falls Abnormality of the nervous system Areflexia Axonal loss Decreased [ncbi.nlm.nih.gov]

  Symptoms CMT4 causes muscle weakness, mostly in the distal muscles (those far from the center of the body), but sometimes also in proximal muscles (those close to the center of the body). [charcot-marie-toothnews.com]

• Areflexia

  […] demyelinating sensorimotor neuropathy typically manifesting with delayed motor development, proximal and distal asymmetric muscle weakness and atrophy of the lower and upper extremities, severe motor dysfunction with mildly reduced sensory impairment, and areflexia [orpha.net]

  [from NCI] Show allHide all Abnormality of limbs Ankle contracture Abnormality of the musculoskeletal system Ankle contracture Distal arthrogryposis Distal muscle weakness Frequent falls Abnormality of the nervous system Areflexia Axonal loss Decreased [ncbi.nlm.nih.gov]

  (areflexia) Inability to sense the orientation of body parts and balance issues (proprioception) Difficulties with balance and proprioception (inability to sense) Decreased response to touch below the knee High arches and drop foot (difficulty lifting [livingcmt4j.com]

• Paresis

  Hearing loss, vocal cord involvement, and facial paresis (partial paralysis) have been reported. The nerve conduction velocity (the speed at which nerve signals travel across nerve cells) is slow and usually ranges between 16 and 36 m/s in the arms. [charcot-marie-toothnews.com]

  AXONAL, TYPE 2K CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2L CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2N CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2O CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2P CHARCOT-MARIE-TOOTH DISEASE, AXONAL, WITH VOCAL CORD PARESIS [medlineplus.gov]

• Guillain-Barré Syndrome

  It is considered the chronic counterpart of the acute disease Guillain-Barré Syndrome. [livingcmt4j.com]

• Mild Cognitive Impairment

  She met the criteria for mild cognitive impairment. [ncbi.nlm.nih.gov]

• Hand Tremor

  Additional pertinent findings on physical examination included: slow resting hand tremor (right more than left); slow and dysrhythmic finger tapping bilaterally; and bilateral upper extremity rigidity with cogwheeling. [ncbi.nlm.nih.gov]

• Nerve Conduction Velocity Decreased

  conduction velocity Decreased nerve conduction velocity Distal sensory impairment Frequent falls Gait disturbance Motor delay Onion bulb formation Peripheral hypomyelination IMPORTANT NOTE: NIH does not independently verify information submitted to the [ncbi.nlm.nih.gov]

The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment. [orpha.net]

To date there is also no treatment for CMT4. The prevalence is also unknown. We would like to evaluate potential early stage therapeutic treatments for CMT4 and you can help! [hnf-cure.org]

While there is currently no cure or treatment for people living with CMT4J, there are therapeutic management strategies. [livingcmt4j.com]

It does not provide medical advice, diagnosis, or treatment. This content is not intended to be a substitute for professional medical advice, diagnosis, or treatment. [charcot-marie-toothnews.com]

The etiology of amyotrophic lateral sclerosis is likely to be multifactorial, involving both genetic and environmental factors. The disease is inherited in 5-10% of the cases. [antibodies.com]

Epidemiologic Study of Charcot-Marie-Tooth Disease: A Systematic Review. Neuroepidemiology. 2016;46(3):157-65. doi: 10.1159/000443706. Epub 2016 Feb 6. Review. [medlineplus.gov]

Mutations in EGR2 result in an abnormal protein that is unable to bind to the DNA, preventing the expression of genes involved in myelin production. This results in loss of myelin and impaired nerve signal transmission. [charcot-marie-toothnews.com]

Fig 4 expression in the rodent nervous system and its potential role in preventing abnormal lysosomal accumulation. J Neuropathol Exp Neurol 2012;71:28–39. [PubMed] [Google Scholar] [ncbi.nlm.nih.gov]