CMT4J is a variable disease, which means that signs and symptoms can be experienced differently from individual-to-individual. Some people living with CMT4J may show signs and symptoms in early childhood years, meaning their disease becomes more apparent earlier, and may become more severe as the disease progresses over time. Others may be living with a late onset form, where their disease does not become apparent until their later years. Some people may experience only periodic muscle weakness, while others may develop rapidly progressing muscle-related difficulties. A physical trauma or an illness may cause symptoms to worsen more quickly.

Generally, CMT4J affects all muscles. It is also common for a specific muscle to be affected on one side of the body and not the other, or for only part of a leg, not the entire leg, to be affected. Sensory involvement varies from person-to-person.

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
Birth Through Age 5

Our daughter was born healthy without indication of muscle weakness. At around 3 ½ years old, we started to notice she would fall easily, was a guarded walker, had balance issues, and started riding her tricycle later than her peers. We originally attributed these symptoms to her calm spirit and laid-back personality.

- Sabrina, mother of daughter living with CMT4J

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Adolescent years

As the disease continues to progress through the adolescent years, weakness in the muscles typically accelerates and other signs and symptoms may become apparent:

  • Overwhelming fatigue
  • Respiratory compromise or muscle weakness leading to respiratory infections
  • Grooved tongue (with deep fissures, cracks, and grooves)
  • Gradual decline in muscle effectiveness (muscle atrophy)
  • Arm and leg weakness
  • Joint instability
  • Joint dislocation
  • Numbness and tingling or pain in hands and feet
  • Diminished or lack of deep tendon reflexes (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 the front part of the foot) or flat feet
Adolescent years

Childhood Years

Mild, varied issues with motor development and muscle weakness can become more apparent in this age range. You may notice some of the following signs and symptoms:

  • Scoliosis
  • Difficulties with physical activities
  • Progression of muscle weakness and muscle loss
  • Balance issues
  • Numbness and tingling or pain in hands and feet
  • Uneven weakness in proximal muscles (upper arms, shoulders, and upper legs) and distal muscles (forearms and below the knee)
  • Diminished or lack of deep tendon reflexes (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
  • Joint instability or joint contractures
  • Clumsy walking (gait), frequent tripping and clumsiness
  • High arches or flat feet
Childhood Years

Our son’s disease became apparent early, progressed quickly, and he was in a wheelchair by the age of 4. Today, our son is 8. While he suffers from constant respiratory infections and has lost his motor functions, he has found a number of ways to stay social, happy, and engaged through adaptive technology.

- Daniel, father of son living with CMT4J

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Adulthood

Symptoms reported vary between late versus early-onset cases of CMT4J. Adaptive equipment is typically needed prior to adulthood. Common signs and symptoms during this time include:

  • Overwhelming fatigue
  • Speech or eating challenges
  • Respiratory compromise or muscle weakness leading to respiratory infections
  • Rapidly progressive asymmetric (uneven) paralysis of arms and legs
  • Numbness and tingling or pain in hands and feet
  • Diminished or lack of deep tendon reflexes (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
Adulthood

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
Birth Through Age 5

Our daughter was born healthy without indication of muscle weakness. At around 3 ½ years old, we started to notice she would fall easily, was a guarded walker, had balance issues, and started riding her tricycle later than her peers. We originally attributed these symptoms to her calm spirit and laid-back personality.

- Sabrina, mother of daughter living with CMT4J

Read story

Childhood Years

Mild, varied issues with motor development and muscle weakness can become more apparent in this age range. You may notice some of the following signs and symptoms:

  • Scoliosis
  • Difficulties with physical activities
  • Progression of muscle weakness and muscle loss
  • Balance issues
  • Numbness and tingling or pain in hands and feet
  • Uneven weakness in proximal muscles (upper arms, shoulders, and upper legs) and distal muscles (forearms and below the knee)
  • Diminished or lack of deep tendon reflexes (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
  • Joint instability or joint contractures
  • Clumsy walking (gait), frequent tripping and clumsiness
  • High arches or flat feet
Childhood Years

Our son’s disease became apparent early, progressed quickly, and he was in a wheelchair by the age of 4. Today, our son is 8. While he suffers from constant respiratory infections and has lost his motor functions, he has found a number of ways to stay social, happy, and engaged through adaptive technology.

- Daniel, father of son living with CMT4J

Read story

Adolescent years

As the disease continues to progress through the adolescent years, weakness in the muscles typically accelerates and other signs and symptoms may become apparent:

  • Overwhelming fatigue
  • Respiratory compromise or muscle weakness leading to respiratory infections
  • Grooved tongue (with deep fissures, cracks, and grooves)
  • Gradual decline in muscle effectiveness (muscle atrophy)
  • Arm and leg weakness
  • Joint instability
  • Joint dislocation
  • Numbness and tingling or pain in hands and feet
  • Diminished or lack of deep tendon reflexes (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 the front part of the foot) or flat feet
Adolescent years

Adulthood

Symptoms reported vary between late versus early-onset cases of CMT4J. Adaptive equipment is typically needed prior to adulthood. Common signs and symptoms during this time include:

  • Overwhelming fatigue
  • Speech or eating challenges
  • Respiratory compromise or muscle weakness leading to respiratory infections
  • Rapidly progressive asymmetric (uneven) paralysis of arms and legs
  • Numbness and tingling or pain in hands and feet
  • Diminished or lack of deep tendon reflexes (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
Adulthood

Common signs and symptoms

While the signs, symptoms, and age of onset of CMT4J may vary and can progress differently in each individual, there are common signs and symptoms that are consistent across people living with CMT4J. People living with CMT4J commonly have muscle weakness and muscle loss. In addition, they may also have a reduced ability to sense touch, pain, and vibration. In some cases, these symptoms may eventually lead to the inability to walk and some patients may become dependent on adaptive devices to remain mobile. It is important to note that motor symptoms are more common for CMT4J than sensory symptoms, which tend to be mild or nonexistent.

  • 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 muscles (upper arms, shoulders, and upper legs) and distal muscles (forearms and below the knee) and muscle loss
  • Leg atrophy (weakness), which can lead to tripping and clumsiness
  • Diminished or lack of deep tendon reflexes (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
CMT4J Glossary of Terms

Sources:

  1. 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 neuropathy caused by mutations in the PI(3,5)P₂ phosphatase FIG4Brain: a journal of neurology134(Pt 7), 1959–1971. doi:10.1093/brain/awr148. Retrieved June 26, 2019, from link.
  2. Field research conducted by Neurogene and Ten Bridge Communications, July 2019.
  3. Li, J. (1993). Charcot-Marie-Tooth Neuropathy Type 4J. Retrieved June 26, 2019, from link.
  4. Kniffin, C. L. (2017, June 19). CHARCOT-MARIE-TOOTH DISEASE, TYPE 4J; CMT4J. Retrieved June 26, 2019, from link.
  5. Mayo Clinic. Foot drop. Retrieved August 5, 2019, from link.
  6. 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.