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

[…] 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]

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]

• Yawning

  Hu, B., McCollum, M., Arpag, S., Moiseev, D., Castoro, R., Burnette, B., Siskind, C., Day, J., Yawn, R., Feely, S., Yan Q., Shy., M., Li, J. (2018). [livingcmt4j.com]

• Areflexia

  [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]

  […] 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]

  (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]

• Motor Symptoms

  It is important to note that motor symptoms are more common for CMT4J than sensory symptoms, which tend to be mild or nonexistent. [livingcmt4j.com]

• 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]

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]

Congenital Myasthenic Syndromes: a Clinical and Treatment Approach. Current treatment options in neurology, 20(9), 36. https://doi.org/10.1007/s11940-018-0520-7 Rodríguez Cruz, P. M., Palace, J., & Beeson, D. (2018). [igenomix.es]

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]

Arthrogryposis (multiple congenital contractures): Diagnostic approach to etiology, classification, genetics, and general principles. European Journal of Medical Genetics, 57(8), 464-472. doi:10.1016/j.ejmg.2014.03.008 Solicitar información [igenomix.es]

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]

An epidemiological genetic study of Charcot-Marie-Tooth disease in Western Japan. Neuroepidemiology 2002;21:246-50. http://dx.doi.org/10.1159/000065643 Charcot JM. [periodicos.unifesp.br]

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]