While there is currently no cure or treatment for people living with A rare inherited peripheral neuropathy often characterized by rapidly progressive, asymmetrical upper and lower extremity weakness, muscle atrophy leading to handicap, and respiratory issues with no available treatment. CMT4J is a recessive subtype of CMT caused by a variant, also referred to as a mutation, in the FIG4 gene., there are therapeutic management strategies. There are also opportunities for participation in There are two types of natural history studies: prospective and retrospective. A natural history study examines a group of people who have a specific medical condition or disease or are at risk of developing one. A natural history is non-interventional and collects health information in order to understand how the medical condition or disease develops and how to possibly treat it. No treatment or investigational product is given. In a prospective study, this data collection is forward-looking and is done over time in the future. In a retrospective study, researchers review and examine factors related to an outcome in the past by looking back on past exposures and medical events., which can contribute to the community’s understanding of the disease. Information on the Natural History Study of CMT4J can be found here.
People living with CMT4J may require varying levels of support and assistive devices. Most likely, families will benefit from a team of healthcare professionals to help manage the progressive and, in some cases, rapidly severe impact of their disease. Useful specialists may include:
Low-intensity therapeutic management strategies may bring symptom relief. Individuals living with CMT4J could explore the following with their physical therapist:
- Water (aquatic) therapy leverages dynamic resistance movements under water.
- Home-based resistance programs that focus on improving strength related to daily life.
- Stretching for maintenance and optimization of functional limb use, especially as weakness persists.
- Pilates and yoga reinforce similar strategies; stretching and can be helpful with maintenance of muscle function.
A range of adaptive devices, equipment, and supportive interventions may become necessary for those living with CMT4J, depending on the severity of the disease.
Learn more about equipment, recreation, and support:
The amount of supportive care an individual with CMT4J needs is typically relative to the age of onset and the severity of their disease. However, not all cases are as severe, and even severely-affected individuals can live independently with the help of adaptive devices. Home adaptations may also be helpful, and recommendations can be obtained through a physical therapist. Various levels of accessibility and support can help to cultivate independent living skills as symptoms progress.
- Nicholson, G., Lenk, G. M., Reddel, S. W., Grant, A. E., Towne, C. F., Ferguson, C. J., … Meisler, M. H. (2011). Distinctive genetic and clinical features of CMT4J: a severe Nerve problem that causes pain, numbness, tingling, swelling, or muscle weakness in various parts of the body typically beginning in the hands or feet, then getting worse over time. caused by A mutation is any inherited genetic change. The term “mutation” is being replaced by the term “variant.” in the PI(3,5)P₂ phosphatase The FIG4 gene is the only gene in which pathogenic variants are known to cause CMT4J.. Brain: a journal of neurology, 134(Pt 7), 1959–1971. doi:10.1093/brain/awr148. Retrieved June 26, 2019, from link.
- Field research conducted by Neurogene and Ten Bridge Communications, July 2019.
- McCorquodale, D., Pucillo, E. M., & Johnson, N. E. (2016). Management of The most common inherited motor and sensory neuropathies, composed of a group of pathologically and genetically distinct subtypes ranging from slowly to rapidly progressive disease. CMT is further classified based on the genetic mutation or variant involved – for instance, CMT4A, CMT4B, etc. disease: improving long-term care with a multidisciplinary approach. Journal of multidisciplinary healthcare, 9, 7–19. doi:10.2147/JMDH.S69979. Retrieved on June 26, 2019, from link.
- CMT. (n.d.). Retrieved June 26, 2019, from link.