Is it Safe to Get Pregnant with FSHD?

Yes, it is generally safe for women with Facioscapulohumeral dystrophy (FSHD) to get pregnant, and many have successful, healthy pregnancies ^[1][2]. However, because FSHD affects muscle strength, you will need a specialized care team to monitor your breathing, manage potential changes in muscle weakness, and carefully plan your delivery and anesthesia. Because FSHD is genetic, there is also a 50% chance of passing the condition to your child.

Passing on the FSHD Gene

FSHD is an autosomal dominant condition ^[3][4]. This means that you only need one copy of the genetic mutation to have the disease, and there is a 50% chance of passing the gene to each child you have ^[3]. It is reassuring to know that even if the baby inherits the FSHD gene, fetal development and movement in the womb are typically completely normal, as infantile-onset symptoms are rare.

If you are planning to grow your family, you can meet with a genetic counselor to discuss family planning options. Options include prenatal diagnosis (testing during pregnancy) and preimplantation genetic testing (PGT), which involves testing embryos created through IVF before they are implanted ^[3][5]. These procedures can be complex, so discussing them with a specialist early on can help you understand your choices ^[4].

Muscle Weakness and Fall Risks During Pregnancy

The physical demands of pregnancy—including weight gain and changes to your center of gravity—can put extra strain on your muscles. Additionally, pregnancy hormones like relaxin loosen your joints to prepare for birth. When combined with baseline FSHD muscle weakness, this joint laxity can significantly increase your risk of falls.

While pregnancy outcomes in patients with FSHD are generally favorable, some women experience increased muscle weakness ^[1][2]. In one study of women with hereditary neuromuscular disorders, about 12% of women with FSHD reported a permanent worsening of their muscle weakness following pregnancy and delivery ^[6]. This likely means that they did not fully regain their pre-pregnancy baseline strength after the physical strain, or that the strain coincided with the natural progression of the disease ^[6]. For most women, however, pregnancy and delivery do not cause a permanent acceleration of the disease ^[6]. Working with a physical therapist during your pregnancy can help you safely manage changes in your mobility and prevent falls.

Breathing and Respiratory Monitoring

As a baby grows, the uterus pushes upward against the diaphragm, which can make taking deep breaths more difficult. Because FSHD can weaken the muscles involved in breathing, this natural change during pregnancy requires careful attention ^[7][8].

If you have FSHD, your doctors should evaluate your respiratory muscle function early in your pregnancy to establish a baseline ^[7]. You are at a higher risk for breathing difficulties if you have a severe form of FSHD, use a wheelchair, or have kyphoscoliosis (an abnormal curvature of the spine) ^[9][10]. In these cases, your breathing should be monitored periodically throughout your pregnancy, even if you don’t feel short of breath ^[9].

Labor, Delivery, and Anesthesia

A vaginal delivery is absolutely possible for women with FSHD, and many do deliver vaginally. However, because pushing requires significant abdominal and pelvic muscle strength, women with FSHD may fatigue more quickly. As a result, there is a higher chance you may need an operative delivery, such as a vaginal delivery assisted by forceps or a vacuum, or a planned cesarean section (C-section) ^[2][11].

Anesthesia planning is a critical part of your care. Before you go into labor, you should have an anesthesiology consultation to discuss your options and document a plan:

• Regional anesthesia: Techniques like epidurals or spinal blocks are considered safe, viable options for women with FSHD, particularly for C-sections ^[2][12]. These are often preferred because they avoid the risks associated with putting you completely to sleep.
• General anesthesia: If general anesthesia is needed, it must be managed carefully. Unlike some other muscular dystrophies, FSHD does not appear to carry an increased risk of malignant hyperthermia (a severe, life-threatening reaction to certain anesthesia drugs) ^[12][2]. However, the anesthesiologist will likely need to avoid certain fast-acting muscle relaxants (like succinylcholine), which can cause dangerous potassium spikes (hyperkalemia) in patients with muscular dystrophies ^[13][14].

Postpartum and Newborn Care

While many guides focus heavily on pregnancy and delivery, the postpartum period presents unique physical challenges for mothers with FSHD. Because FSHD specifically weakens the shoulders and upper arms (the scapulohumeral muscles), lifting a newborn, supporting a baby during breastfeeding, or carrying heavy items like infant car seats can be difficult and fatiguing.

Before the baby arrives, consider working with an occupational therapist (OT). An OT can help you figure out adaptive ways to dress, bathe, and carry your baby given your specific upper body weakness. They can also recommend adaptive baby-care equipment, like specialized nursing pillows, lightweight strollers, and side-opening cribs, to ensure you can care for your newborn safely and comfortably.