Contraception and screening for cervical and breast cancer in neuromuscular disease: A retrospective study of 50 patients monitored at a clinical reference centre

AbstractObjectiveTo analyse contraceptive methods and the extent of screening for breast and cervical cancer in women with neuromuscular disease, compare these results with data and guidelines for the general population and determine the environmental and attitudinal barriers encountered.Patients and methodsA retrospective, descriptive study in a population of female neuromuscular disease patients (aged 20 to 74) monitored at a clinical reference centre.ResultsComplete datasets were available for 49 patients. Seventy percent used contraception (hormonal contraception in most cases). Sixty-eight percent had undergone screening for cervical cancer at some time in the previous 3 years and 100% of the patients over 50 had undergone a mammography. Architectural accessibility and practical problems were the most common barriers to care and were more frequently encountered by wheelchair-bound, ventilated patients.ConclusionsIn general, the patients had good access to contraceptive care and cervical and breast cancer screening. However, specific measures may be useful for the most severely disabled patients

Pseudometabolic expression and phenotypic variability of calpain deficiency in two siblings

Two siblings originating from Reunion Island were affected by a limb-girdle muscular dystrophy (LGMD) type 2A and carried the same two mutations in the calpain gene: 946-1 AG-->AA, affecting a splice site, and S744G. They demonstrated the clinical variability possible with calpain-3 mutations. Onset was around 20 years of age in each of them. The girl's symptoms mimicked a metabolic myopathy, while her brother, at the same age, presented a classical phenotype of LGMD in an advanced functional stage