Finding out that you are pregnant conjures up a lot of feelings: nervousness, excitement, happiness, and love. But if you have a rare disease or disorder, especially a genetic condition, you may also wonder how it will affect your pregnancy. However, those with Charcot-Marie-Tooth disease can feel reassured by the findings of a new study. The findings, published in the European Journal of Neurology, show that Charcot-Marie-Tooth disease does not increase the risk of complications during pregnancy or delivery.

Charcot-Marie-Tooth Disease

Charcot-Marie-Tooth disease (CMT) is almost a paradox: it is both a rare neurological disorder, but also one of the more common inherited neurological disorders. Also known as hereditary motor and sensory neuropathy, Charcot-Marie-Tooth disease damages peripheral nerves and interrupts communication between the brain and the body.

Charcot-Marie-Tooth disease is called by gene mutations. The subset depends on which genes are affected. For example, those with a CMT2 mutation would have different symptoms than those with a CMT4 mutation. There are over 80 gene mutations that can result in CMT.

Symptom onset usually occurs in adolescence and gradually progresses throughout someone’s life. Symptoms include:

• Fatigue
• Clumsiness
• Curled toes, high arches, or other foot deformities
• Leg and hand cramps
• Leg and hand muscle atrophy, weakness, or deformities
• Problems with balance and walking
• Foot drop, or difficulty lifting your foot at the ankle
• Numbness
• Frequent tripping

Learn more about Charcot-Marie-Tooth disease.

The Study Results

Contextualizing the Problem

In 1993, a study in Neurology explored the relationship between Charcot-Marie-Tooth disease type 1 (caused by a CMT1 mutation) and pregnancy, delivery, and obstetric complications. Though the study found that some patients did experience some symptoms worsening, like fatigue or weakness, the results ultimately showed that:

the rate of obstetric complications…was in accordance with that of the normal population [those without Charcot-Marie-Tooth disease] and there was no deleterious effect on fatal outcome.

Basically, the 1993 study set the stage for the idea that those with CMT were not at increased risk of pregnancy or delivery-related complications. However, many patients and doctors recently questioned whether that was still accurate. Since the first study, other studies showcased inconclusive findings: either that CMT did not increase risk, or that it increased the risk of postpartum bleeding and problems during delivery.

Charcot-Marie-Tooth Disease, Pregnancy, and Delivery

Researchers sought to better understand how Charcot-Marie-Tooth disease impacted pregnancy and delivery in contemporary society. To fill you in on some of the data from the study:

• The study tracked 3 main elements. Overall, researchers wanted to track pregnancy-related patient outcomes, pregnancy and delivery complications, and newborn health.
• It was conducted over a 3-year period as part of the CMT NET study. This was an observational clinical study on the relationship between CMT and pregnancy.
• There were pregnancy-related requirements for participants. Study participants needed a confirmed diagnosis of Charcot-Marie-Tooth disease. They must have carried one pregnancy to term after 1990. Additionally, they needed to be pregnant or give birth during the study period (2016-2019).
• The 54 participants had 98 pregnancies between them. This data was sourced from a series of questionnaires given to participants. Out of the 98 pregnancies, 14 (14.3%) were miscarriages. 84 pregnancies (85.7%) were complete pregnancies, which birthed 86 infants.

Out of the participants:

• 12.6 years old: the mean age of symptom onset.
• 28.5 years old: the mean age of first pregnancy and delivery.
• 50: the number of participants who had only 1 mutated CMT gene.
• 2: the number of participants with 2 mutated genes.
• 2: the number of participants with the gene mutation in the X chromosome.
• 40: the number of participants with Charcot-Marie-Tooth disease type 1a, caused by a PMP22 gene duplication.

Admittedly, 18 women noted an increase in Charcot-Marie-Tooth-related symptoms during pregnancy or delivery. However, despite this, researchers found that CMT did not impact anesthesia use, infant death rates, or pregnancy or delivery-related complications. Much like the 1993 study, this study found that the rate of complications matched that of the general population.

Advice

To end the study, participants were asked what advice they would give to others. So, for those of you who are pregnant or looking to have a child, and you are also part of the rare disease community:

• Stay positive.
• Be aware of general challenges associated with pregnancy and delivery. But also, look into ways your specific condition might impact pregnancy. Think up a list of questions to ask your doctor!
• Look for patient advocacy groups to find resources.
• Don’t be afraid to ask for help and support.

Read the original article here.