Background: Charcot Marie Tooth disease (CMT) in children presents with a wide range of non-specific subtle symptoms causing a delay in the diagnosis.
Objective: To study the diagnostic dilemma and difficulties surrounding diagnosis of CMT disease in children with and without known family history.
Methods: Retrospective chart review of the patients with CMT disease followed in the neuropathy clinic at Arkansas Children’s hospital. We analyzed the medical records of 54 patients.
Results: Our study population consists of 48% females. CMT type 1A was the most common type (55%). In patients with family history of CMT disease, symptoms were first noted at a mean age of 3.7 years, and concerns were expressed to a primary care provider at a mean age of 5 years. Mean ages at the time of clinical diagnosis and genetic diagnosis were 7.2 years and 8 years respectively. In patients without a family history of CMT disease, symptoms were first noted at a mean age of 5.6 years, and concerns were expressed to a primary care provider at a mean age of 6.7 years. Mean ages at the time of clinical diagnosis and genetic diagnosis were 9.3 years and 10.3 years respectively. The most common initial symptoms were abnormal gait (46%), frequent falling (44.4%) and feet pain (33.3%). Majority of the patients were initially referred to orthopedics (40%), followed by genetics (24%) and physical medicine and rehabilitation (20%). Final diagnosis of CMT disease was made by neurology (71%) in majority of our patients followed by physical medicine and rehabilitation.
Conclusions: There is delay of about 4 years between symptom onset and diagnosis in children with family history and the delay is about 5 years in children without family history. Symptoms were recognized at an earlier age in children with family history. Though pediatric neurology was eventually invovled in the care and diagnosis, initial referral was not made to neurology in majority of the children delaying the diagnosis.
More data will be presented in the meeting.