No deleterious outcome of pregnancy and labor was observed in this series of patients with muscular dystrophy or CM, although operative deliveries were more frequent. A significant aggravation of symptoms in gestation is more likely to occur in patients with early-onset and progressive myopathy than in those with stable disease courses.

We report the obstetric complications and the influence of pregnancy and delivery in 21 Charcot-Marie-Tooth disease type 1 (CMT 1) patients with 45 gestations. Sixteen patients had subjective disabilities from childhood or youth, and five with late onset had subclinical CMT when they became pregnant. The rate of obstetric complications in the study group was in accordance with that of the normal population, and there was no deleterious effect on fetal outcome. Of the 21 participants, 38% (8 of 21) reported an exacerbation of CMT in at least one pregnancy. These patients noted increasing weakness in 81% (17 of 21) of their gestations. A temporary worsening occurred in 35% (6 of 17) of these pregnancies, and neurologic disabilities persisted after 65% of the deliveries (11 of 17). Patients who had pregnancy-associated progression in the first gestation (7 of 21) experienced similar deterioration in subsequent pregnancies (10 of 11), ie, there is a high risk for recurrence of exacerbations. Four women (19%) stated that their last deliveries were responsible for either an exacerbation or the onset of the neuropathy. The remaining nine patients (43%) denied any effect of their gestations on the progression of the neuropathy. Among the patients who had subjective disabilities from childhood or youth, the risk of a noticeable exacerbation in at least one pregnancy was 50% (8 of 16) and affected 81% of their gestations (17 of 21), whereas there was no influence of pregnancy in the five patients with adult onset of CMT, although the first symptoms were noticed postpartum in two of them.(ABSTRACT TRUNCATED AT 250 WORDS)

The obstetric histories of 26 women with myotonic dystrophy (DM), who had a total of 67 gestations, were reviewed retrospectively comparing gestations with affected (DM-fetuses) and unaffected fetuses (UA-fetuses). Second, the influence of gestation on the disease course and the personal attitude towards family planning in DM was assessed. Miscarriages and terminations occurred in 11 pregnancies. Of the 56 infants carried to term, 29 had or most likely had inherited the gene for DM from their affected mothers at the time of investigation; 18 (61%) in this series were affected by the congenital form of DM. Perinatal loss rate was 11% and associated with congenital DM. The rate of obstetric complications was significantly increased in all women. However, preterm labor was a major problem in gestations with DM-fetuses (55 vs. 20%), as was polyhydramnios (21% vs. none). While forceps deliveries or vacuum extractions were required in 21% of deliveries with DM-fetuses and only 5% of UA-fetuses, the frequency of Cesarean sections was similar in both groups (24 and 25%). Obstetric problems were inversely correlated with age at onset of maternal DM, while no effect of age at delivery or birth order on gestational outcome was seen. DNA analysis confirmed the diagnosis in 19 patients by the presence of enlarged CTG repeats (EcoRI-expansions) on chromosome 19. Of the 17 patients whose CTG repeat length was known, 59% were classified as E2 (corresponding to 500-1000 repeats), 24% as E1 (<500 repeats), while larger expansions (E3; 1000-1500 repeats, or E4; >1500 repeats) were seen in three patients (17%). Obstetric complications or congenitally affected children occurred in all maternal phenotypes and CTG repeat classes. Eight (31%) patients experienced a worsening of symptoms that was temporary, weight related in three cases, and persistent in five. With the exception of three patients, most new mothers were able to care for their families. To conclude, pregnant women with DM need constant obstetric monitoring and should be advised to deliver in centres with perinatal facilities.

We analysed the clinical picture of 101 sibs (43 sib pairs, 5 triplets) with autosomal recessive proximal spinal muscular atrophy (SMA). Linkage data of 20 sibships, which were available for analysis, were in agreement with chromosome 5q linkage. The patients were classified according to the motor development into SMA I (never sat), SMA II (sitting without support), and SMA III (walking without aids). Three sibs with adult onset (> 30 years = SMA IV) were discussed as a separate entity. Age-of-onset of the 101 patients showed a wide spectrum (prenatal to 47 years). Among sib pairs with SMA I and SMA II the ages-of-onset appeared to be very similar except of one atypically discordant sib pair. With regard to SMA III, 3 out of 13 sibships (23%) showed a marked variation in age-of-onset ranging from 5-15 years within a family. Concerning acquired motor development (ability to sit and walk), 7 sibships (15%) belonged to different SMA types. Ages of death in 29 sib pairs in whom at least one sib had died before the age of 20 years were strikingly discordant. Neither the degree of disability nor the respiratory deficits are reliable predictors of life expectancy. Although a predominance of males can be observed, no significant effect of gender has been established in familial cases. The existence of multiple allelism seems to be the most suitable explanation for the high interfamilial variability considering the clinical concordance in most affected sib pairs.

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