If you have a rare condition and are also looking to start a family, you might question: how will my condition impact my pregnancy? Will I be able to have healthy children? According to Charcot-Marie-Tooth News, a recent Italian study explored the intersections of pregnancy and Charcot-Marie-Tooth disease (CMT). The study, published in Neurology, found that while CMT did not really alter pregnancy outcomes, such as the health of newborns or rates of miscarriage, CMT could cause heightened CMT-related symptoms and more pregnancy-related complications.

The Research

During the study, researchers sourced data from the Italian CMT Registry. This data included information on newborn health, symptom and disease progression throughout pregnancy, and how CMT related to pregnancy and delivery complications. They were particularly interested in disease progression in relation to those with CMT1A, a subtype of CMT. An extra PMP22 gene causes CMT1A; during pregnancy, progesterone increases cause PMP22 to be expressed more.

Altogether, the data was sourced from 139 patients with CMT and 31 controls. Insights from the data include:

• 86 females with CMT were pregnant at some point. Overall, there were 193 pregnancies between these females. Of these, there were 157 deliveries accounting for 163 newborn babies. Out of the 163 newborns, there were six sets of twins.
  • About 50% of these females had CMT1A, accounting for 109 pregnancies.
  • The most frequent additional subsets of CMT included CMT1B, CMTx1, CMT2A, CMT2I/J, and CMT2F.
• In the control group, 24 females had been pregnant at some point. Overall, there were 59 pregnancies between them. There were 46 deliveries with one pair of twins.
• Rates of delivery, C-section, miscarriage, and abortion were fairly similar between the controls and those with CMT. Additionally, the overall health and weight of newborns also did not differ significantly.
• While those with CMT were more likely to experience placenta previa or unwanted fetal positions, the most significant difference between the two groups was the rate of early deliveries. Females with CMT were much more likely to have their children earlier than expected.
• In a small number of those with Charcot-Marie-Tooth disease, their condition progressed during the trial. However, unlike the researchers hypothesized, there was not a huge increase in CMT1A alone; other subtypes also experienced some progression.

Charcot-Marie-Tooth Disease (CMT)

While Charcot-Marie-Tooth disease is rare, it is also considered to be one of the more common inherited neurological conditions. It is also called hereditary motor and sensory neuropathy, which means that it impacts the peripheral nerves of the brain and spinal cord. A variety of gene mutations cause Charcot-Marie-Tooth. Because there are multiple subtypes of the condition, such as CMT1A or CMT3, the distinctions sit in which specific mutation is involved. In many cases, patients begin experience symptoms in adolescence or early adulthood. These symptoms include:

• Muscle atrophy and weakness in the hands
• Hammertoes, high arches, or other foot deformities
• Foot drop
• Frequent tripping
• Lower leg deformities
• Foot and lower leg muscle weakness
• Difficulty with walking and fine motor skills
• Tremor