Normal vaginal delivery in a patient with autosomal recessive limb-girdle muscular dystrophy

Abstract

Summary:The limb-girdle muscular dystrophies (LGMDs) are a group of genetically determined disorders of skeletal muscle, predominantly affecting the pelvic and shoulder-girdle musculature. The clinical course is variable but steadily progressive. Type 2ALGMD is the most frequent form, accounting for approximately 30% of identified cases. There are few reports of patients with Type 2A LGMD undergoing pregnancy and delivery. This case outlines a successful vaginal delivery in a woman with this condition.Keywords: high-risk pregnancy, maternal -fetal medicine, neurology, perinatal medicine CASE REPORTThe patient, a 24-year-old primigravida, presented for antenatal care at The Royal Women's Hospital, Melbourne at 26 weeks gestation. Her neurological diagnosis was established at the age of 17 years on the basis of a muscle biopsy, which showed diagnostic features of myopathy. Further immunohistochemical studies using Western immunoblotting were arranged and proved consistent with Type 2A limb-girdle muscular dystrophy (LGMD). Her parents were consanguinous and her sister, aged 15 years, was experiencing similar symptoms at that time but had not undergone formal investigation.At the time of diagnosis the patient underwent calf tendon releases, with no subsequent neurological review. Prior to pregnancy she was unable to walk without assistance and relied on family members to support her while she walked. This included assistance to rise from the seated or lying position. She was unable to run or climb stairs. Her routine booking blood tests were essentially normal except for an elevated glucose tolerance test, consistent with gestational diabetes, which responded to dietary measures. Her body mass index at booking was 26 kg/m 2 . She underwent neurological review at 32 weeks gestation. Examination revealed shoulder-girdle weakness with inability to lift her arms above her head, symmetrical lower limb weakness, calf hypertrophy and wasted quadriceps and hamstring muscles, with power 2/5 in the limb girdles. Echocardiogram, electrocardiograph and pulmonary function tests were performed and were essentially normal. A caesarean section for delivery was initially recommended by the neurology team on the basis of her poor motor function and concerns that this may preclude a vaginal delivery. However, in conjunction with the patient's wishes, a vaginal delivery was proposed, with assistance in the second stage of labour if required.Serial ultrasounds in the third trimester showed appropriate fetal growth. Her antenatal course was complicated by a fall at 34 weeks gestation resulting in a right medial malleolar fracture. This necessitated the use of a wheelchair for mobility, and subcutaneous heparin was commenced for deep venous thrombosis prophylaxis.At 39 weeks gestation, induction of labour was recommended due to unstable blood sugars and numerous social and logistical issues, including difficulty for carers to arrange transport to the hospital for appointments. Artificial rupture of membranes was performed and an oxytocin...

Challenges faced during Obstetrical Management in Pregnant Woman with Rare Neurological Conditions: A Retrospective Study

“…There is one study reporting successful vaginal delivery. 14 Other studies concluded that management of limb-girdle muscular dystrophy should be individualized, as the symptoms vary among patients and spinal anesthesia can be safely used. However, in our study, a case of limb-girdle muscular dystrophy was managed by elective LSCS as per neurologist advice under general anesthesia there were no complications observed during LSCS or in the postoperative period.…”

Obstetric management of a woman with limb-girdle muscular dystrophy type 2i and dilated cardiomyopathy

“…However, vaginal delivery is possible and has been reported. 11,12 The largest study of obstetric outcomes in women with LGMD includes 22 patients who delivered 29 children. This study reported a high proportion of breech presentations in women with LGMD which was postulated to be related to mobility in pregnancy and wheelchair use.…”

179th ENMC international workshop: Pregnancy in women with neuromuscular disorders

“…However, there is still controversy about the appropriate options for anaesthesia and analgesia management in SMA patients, as information is limited [25,27]. Similar conclusions are applicable for the heterogeneous group of muscular dystrophies [28][29][30] but due to a variable progression -in comparison to stable SMA III -more women report a negative influence of pregnancy on their muscle disease [31]. The information for FSHD is largely based on a small German and Australian series [31] and a larger American study [32] which yielded conflicting results as to the incidence of operative deliveries and preterm birth rate.…”