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

Norwood, Fiona; Rudnik‐Schöneborn, Sabine

doi:10.1016/j.nmd.2011.05.009

Cited by 37 publications

(38 citation statements)

References 43 publications

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“…In case of maternal hypoxia with O 2 saturation under 85%, the rate of live births is only 12%. The recommendation for pregnant women with PD is a cesarean delivery under local instead of general anesthesia 47 .…”

Section: Pregnancy Lactation and Enzyme Replacement Therapymentioning

confidence: 99%

Guidelines for the diagnosis, treatment and clinical monitoring of patients with juvenile and adult Pompe disease

Llerena

Nascimento

Oliveira

et al. 2015

Arq. Neuro-Psiquiatr.

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Pompe disease (PD) is a potentially lethal illness involving irreversible muscle damage resulting from glycogen storage in muscle fiber and activation of autophagic pathways. A promising therapeutic perspective for PD is enzyme replacement therapy (ERT) with the human recombinant enzyme acid alpha-glucosidase (Myozyme®). The need to organize a diagnostic flowchart, systematize clinical follow-up, and establish new therapeutic recommendations has become vital, as ERT ensures greater patient longevity. A task force of experienced clinicians outlined a protocol for diagnosis, monitoring, treatment, genetic counseling, and rehabilitation for PD patients. The study was conducted under the coordination of REBREPOM, the Brazilian Network for Studies of PD. The meeting of these experts took place in October 2013, at L’Hotel Port Bay in São Paulo, Brazil. In August 2014, the text was reassessed and updated. Given the rarity of PD and limited high-impact publications, experts submitted their views.

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Section: Pregnancy Lactation and Enzyme Replacement Therapymentioning

confidence: 99%

Guidelines for the diagnosis, treatment and clinical monitoring of patients with juvenile and adult Pompe disease

Llerena

Nascimento

Oliveira

et al. 2015

Arq. Neuro-Psiquiatr.

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“…Despite the fact that the lower limit for vital capacity in pregnancy is illdefined, as a general rule, women with a forced vital capacity (FVC) of under 1 liter should be advised against pregnancy. 16 In patients with respiratory insufficiency, the indications for assisted ventilation should not be different during pregnancy. 17 Further aspects to assess are cardiac status, scoliosis, contractures including jaw lock, small mouth, neck problems, weakness of abdominal muscles, and any smooth muscle weakness.…”

Section: Commentmentioning

confidence: 99%

Pregnancy and Delivery in Women With Congenital Myopathies

Rudnik‐Schöneborn

Wallgren‐Pettersson

2019

Seminars in Pediatric Neurology

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Reports on pregnancy and delivery issues in women with congenital myopathies are scarce. In this review, we summarize the medical literature along with updates of our own data. Included are patients with nemaline myopathy (n = 11), central core disease (n = 6), multi-minicore disease (n = 2), cytoplasmic body myopathy (n = 1), and congenital fiber-type disproportion (n = 1). Apart from 1 patient with nemaline myopathy, who had used a wheelchair from the age of 18 years, all other women were able to walk when becoming pregnant. In comparison with the general population, there were no increased pregnancy or delivery complications, apart from the fact that 38% elective Cesarean sections took place. Neonatal outcome was favorable. In cases where a possible influence of gestation on muscle function was assessed, a deterioration during or after pregnancy was not observed. Patients who wish to have children should be advised by a multidisciplinary team according to the specific diagnosis, severity, and distribution of muscle weakness.

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“…36 They stress the importance of a multidisciplinary approach to the care of these women, which should include providers in obstetrics, neurology, anesthesiology, and genetics. Pregnancy-related risks and management recommendations for women with DM1 are outlined in Table 4.…”

Section: Myotonic Dystrophymentioning

confidence: 99%