Limb-girdle muscular dystrophy type R2 manifesting as fetal growth restriction in a woman with two pregnancies: a...

Limb-girdle muscular dystrophy (LGMD) is a rare inherited myopathy characterized by progressive weakness of the shoulder and pelvic girdle muscles. Limb-girdle muscular dystrophy type R2 (LGMD R2) caused by DYSF mutations, often shows early onset. Pregnancy in women with LGMD R2 is uncommon and may aggravate neuromuscular disease while predisposing to serious obstetric complications, including fetal growth restriction (FGR), preeclampsia, and intrahepatic cholestasis of pregnancy (ICP). This case is unique as the first report of two pregnancies in a woman with LGMD R2, highlighting recurrent maternal-fetal complications and postpartum disease progression.

A 28-year-old Asian woman with genetically confirmed LGMD R2, diagnosed at age 20 year, underwent two pregnancies managed by a multidisciplinary team (genetics, obstetrics, neurology). Management included enoxaparin (40 mg once daily), low-dose aspirin (100 mg daily initiated at 12 weeks), oral antihypertensives (labetalol ≤600 mg/day), and nutritional supplementation with high-protein diet and vitamins. This coordinated multidisciplinary team (MDT) approach ensured comprehensive, individualized, and continuous care throughout the patient's pregnancies. During the first pregnancy, the patient developed hepatic dysfunction [alanine aminotransferase (ALT) 152 U/L, aspartate aminotransferase (AST) 133 U/L], progressive FGR [estimated fetal weight (EFW) <3rd percentile], and pregnancy-induced hypertension (up to 165/102 mmHg), culminating in medically indicated termination at 34⁺¹ weeks. In the second pregnancy, similar complications recurred, including FGR (EFW <5th percentile), severe preeclampsia (up to 167/110 mmHg), and ICP (serum bile acids 48.7 µmol/L, ALT 414 U/L, AST 332 U/L). Cesarean delivery at 36⁺¹ weeks resulted in a liveborn female infant with favorable neonatal outcomes. The mother recovered without major post-cesarean complications but reported accelerated muscle weakness at 6-month follow-up from baseline.

LGMD R2 significantly increases the risks of FGR, preeclampsia, and ICP, with FGR representing a key challenge due to its direct impact on fetal outcomes. Successful management requires multidisciplinary coordination, early prophylactic strategies such as aspirin, and vigilant monitoring of fetal growth and placental function. Although LGMD is not an absolute contraindication for pregnancy, women face substantial maternal and fetal risks, and pregnancy may accelerate maternal muscle weakness. Individualized reproductive counseling-including consideration of early delivery or pregnancy termination in severe cases-is essential.