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]

• Difficulty Climbing Stairs

  Birth Through Age 5 Typically, motor signs and symptoms don’t become obvious until the toddler years and may include: Balance issues Struggling to crawl might occur Frequent falling or tripping Delayed walking Difficulty climbing stairs Clubfoot deformity [livingcmt4j.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]

• Suggestibility

  As also demonstrated in the previous report of these variants,5 western blot showed minimal expression of FIG4 protein for our patient, suggesting a natural decay of FIG4 mRNA with the skipped exon 18 (Fig. 1D). [ncbi.nlm.nih.gov]

• 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]

• Foot Drop

  Foot drop. Retrieved August 5, 2019, from link. Orengo, J., Khemani, P., Day, J.W., Li, J, Siskind, C. (2018, January 22). Charcot Marie Tooth disease type 4J with complex central nervous system features. Retrieved August 5, 2019, from link. [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]

• Clumsiness

  […] walking (gait), frequent tripping and clumsiness High arches or flat feet Our son’s disease became apparent early, progressed quickly, and he was in a wheelchair by the age of 4. [livingcmt4j.com]

• Guillain-Barré Syndrome

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

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]