Please check out our CMT Guide to Schools and School Supports for Children with CMT: 504 Plans and IEP’s.
My son, otherwise healthy, has an abnormally high bilirubin. Is this in any way connected to his CMT?
There is no connection between high bilirubin, a yellowish pigment found in bile, and CMT.
When do you suggest younger children have electrical stimulation tests to diagnose their suspected CMT?
Most patients with CMT will have EDS at some point, however, this can be a traumatic experience for young children. In families in which the type of CMT is known, DNA analysis can make EDS unnecessary. This test is often helpful when the type of CMT is unknown because it allows the doctor to differentiate between demyelinating and axonal forms of CMT. When EDS is necessary in young children, sedation may be used, though most neurologists prefer not to because it is not effective in preventing pain and may prolong the whole procedure.
Are there particular nutritional guidelines for children with CMT?
A well-balanced diet is the goal. Obesity should be avoided as it may contribute to entrapment of nerves, including spinal nerve roots. Obesity also leads to increased load on muscles and increased risks for joint injury, especially the knees. On the other hand, malnutrition can be dangerous if it is severe enough to affect the child’s ability to fight infection. The child’s nutritional state should be assessed by a dietician before any elective surgery, particularly scoliosis repair.
Does early onset disease mean severe CMT?
In CMT Type 1, progression of the disorder is usually slow even if it presents in early childhood. In some children or adolescents, there may be periods of rapid progression that last for months or years followed by prolonged periods without change (plateaus). In some cases, the progression occurs during growth spurts, but not always. The pattern of progression and plateaus is distinctly unpredictable. The possibility of superimposed acquired neuropathy may be considered if a change in clinical progression is noted, especially in adults.
What is the best physical exercise for children with CMT?
Strengthening exercises may be beneficial if confined to proximal muscles, such as knee extension and flexion, hip extension and abduction exercises. However, such exercises should not involve use of weights in children. Stabilizing the distal joints via use of proper footwear or an orthotic device can help prevent injury. Most clinicians recommend aerobic but non-resistive and low-impact exercise. This includes swimming, walking and bicycling.
A study published in The Lancet Child & Adolescent Health in October 2017, meanwhile, showed that six months of moderate-intensity progressive resistance exercise could help not only slow the progression of muscle weakness by up to 30 percent compared to children with CMT who did not exercise, but also strengthened their muscles over a two-year period.
Before beginning or changing any exercise program, however, you should always consult with your child’s treatment team, including his or her primary care physician, physiatrist and physical therapist.
Is scoliosis a symptom of CMT? I’ve heard it affects school-age children and that it sometimes requires bracing or surgery to correct it. How do I know if I should have my child tested or examined?
The human spine is supposed to curve in a gentle “s” from back to front, but in some youngsters, the spine also curves abnormally from side to side, the defining characteristic of scoliosis.
For reasons that are unknown, scoliosis is far more common in girls than in boys. One girl in 10, but only one boy in 25 has some degree of scoliosis. Most cases have little or no cosmetic or medical significance and never get any worse. Only about 2 to 3 percent of cases require medical attention, which most often involves monitoring periodically to determine if progression requires treatment.
Girls are seven times as likely as boys to develop serious spinal curvatures that will require either bracing to halt the progression or surgery to correct it.
Puberty is the time of greatest risk for the progression of abnormal spinal curves. At that point, while the child’s bones are still growing, there is a narrow window of opportunity to take corrective action with bracing that could eliminate the need for surgery. Early detection is critical.
Many states now mandate screening for scoliosis in schools, a practice endorsed by the American Academy of Pediatric Surgeons. Girls should be screened at ages 11 and 13 and boys at age 13 or 14, although the Academy recommends an annual screening for all children 10 to 14. If a parent has scoliosis, it is especially important that his or her children be examined because the condition runs in families.
Many cases develop in otherwise healthy children, but in 10 to 20 percent of cases there is an underlying cause such as a birth defect, a spinal tumor, a neuromuscular disorder such as polio or muscular dystrophy, a connective tissue disorder like Marfan’s, cerebral palsy, or spina bifida or radiation therapy to the spine. Occasionally, a difference in leg length or an abnormality in the hip may result in scoliosis as the child grows.
A spine affected by scoliosis may have one or more curves from side to side. Most often the abnormality is at the level of the chest, but it may also occur in the lower lumbar region or in both parts of the spine. Cosmetic problems such as uneven shoulders or hips, a protruding shoulder blade or slanted waistline and clothes that don’t hang right can be a problem for children just at the age where they are most likely to be self-conscious about their appearance. But the medical problems are far more serious. Severe scoliosis can produce pain, arthritic symptoms and heart and lung complications resulting from compression of part of the chest.
The National Scoliosis Foundation (800-673-6922) is a good source of information and support for both the child and the child’s parents.
Are CMT kids more susceptible to patellofemoral syndrome?
Pediatric neurologist Dr. Patricia Yum says that while she is not aware of an association between CMT and patellofemoral syndrome, patients with CMT are more likely to have joint pain due to their abnormal gait, including knee pain. Whether the knee pain in some of these patients are due to patella femoral syndrome is unclear. There is no consensus regarding the cause of patellofemoral syndrome. Contributing factors are thought to include overuse and overload of the patellofemoral joint, biomechanical problems and muscular dysfunction. Therefore, while it is possible that patients with CMT may be prone to have patellofemoral syndrome, this will need to be investigated further before there is a definitive answer to this question.
What symptoms might indicate that a toddler has CMT?
In a child, the first signs are usually problems in the feet, including high arches, and difficulty walking or running. Tripping and sprained ankles are common. School-aged kids may have difficulty manipulating small objects and handwriting may prove challenging.
How can I enroll my children in testing/studies?
Please visit a CMTA Center of Excellence at https://www.cmtausa.org/living-with-cmt/find-help/cmta-centers-of-excellence or enroll your child with the Inherited Neuropathies Consortium at https://www.rarediseasesnetwork.org/cms/inc/.