Phenotypic contrasts of Duchenne Muscular Dystrophy in women: Two case reports.

We discussed two cases of symptomatic female carriers to Duchenne Muscular Dystrophy. The first case is a 20 year-old girl with classical phenotypic manifestation of the disease, similar to the condition in boys. The case 2 is a 62 year-old woman with progressive muscular weakness. The disease is much less common in woman than men so both cases described here are considered rare forms of the disease, with several clinical implications. In both cases, a progressive muscle weakness, impairment in walking and sleeping was observed, in addition to obstructive sleep apnea syndrome and alveolar hypoventilation, that required noninvasive ventilatory support.

Impact of corticotherapy, nutrition, and sleep disorder on quality of life of patients with Duchenne muscular dystrophy.

Duchenne muscular dystrophy (DMD) is the second most common hereditary genetic disease in humans and has elevated mortality. DMD is an X-linked, life-limiting progressive muscle-wasting disease found predominantly in boys and young men. One of the main treatments for patients with DMD is corticosteroids. However, long-term use may cause major side effects such as obesity, a reduction in vitamin D, and osteoporosis. Sleep-disordered breathing is a common condition among patients with DMD, especially obstructive sleep apnea (OSA). In children, OSA is associated with obesity and a reduction of vitamin D concentration. In this article we aim to explore the interrelationship that exists between corticosteroids, obesity, OSA, and the risk of osteoporosis. Our main hypothesis is that factors such as nutrition and sleep are related to obesity and OSA, respectively. In addition, the chronic use of corticosteroids, obesity, and OSA are factors that can reduce serum levels of vitamin D, triggering osteoporosis. Thus, these factors play a key role in affecting the quality of life for patients with DMD and intervention based on these aspects may improve survival.

Sleep quality of mother-caregivers of Duchenne muscular dystrophy patients.

BACKGROUND: Sleep disturbance is a common problem for caregivers. In general, patients with Duchenne muscular dystrophy (DMD) use noninvasive ventilation to maintain quality of life and improve survival. OBJECTIVE: The aim of this study was to evaluate the sleep quality of caregiver-mothers of sons with DMD and factors that are associated with their sleep quality. METHODS: We evaluated 32 caregiver-mothers of sons with DMD and 32 mothers of sons without any neuromuscular or chronic disease (control-CTRL group). The evaluation of quality of sleep was made using the Pittsburgh Sleep Quality Index (PSQI). RESULTS: Caregiver-mothers had poor sleep quality, specifically longer sleep latency and reduced sleep efficiency. The impaired sleep quality of the caregiver-mothers was associated with the length of time of noninvasive ventilation used by their sons. CONCLUSIONS: Our results suggest that caregiver-mothers of sons with DMD have poor quality of sleep, and the length of use of noninvasive ventilation of their sons is associated with better sleep of caregiver-mothers.

Waist circumference and postmenopause stages as the main associated factors for sleep apnea in women: a cross-sectional population-based study.

OBJECTIVE: The current study aimed to investigate stages of reproductive aging as an associated factor for obstructive sleep apnea syndrome (OSAS) among women in a representative sample of Sao Paulo, Brazil. METHODS: Four hundred seven women underwent clinical evaluation, polysomnography, and biochemical analysis. Stages of reproductive aging were defined as premenopause, early postmenopause, and late postmenopause. RESULTS: OSAS was more frequent in the postmenopausal groups, with 68.4% of women affected by severe OSAS belonging to the late postmenopause group. After adjustment for potential confounding factors, associated factors for OSAS, regardless of its severity, were waist circumference, modified Mallampati score IV, and both postmenopause stages. For moderate to severe OSAS and severe OSAS, we found waist circumference and both postmenopause stages to be the main factors. We carried out a receiver operating characteristic curve analysis, which demonstrated that the cutoff value for waist circumference was 87.5 cm, with a maximum of 75.7% accuracy for the classification of women as OSAS or non-OSAS. CONCLUSIONS: OSAS is prevalent in postmenopausal women, especially in late postmenopause. This study highlights the association between waist circumference, early postmenopause and late postmenopause, and severity of OSAS. Our findings suggest that postmenopause stages may potentially exacerbate the presence of sleep disturbance and that reducing waist circumference may be an important strategy for managing OSAS in women.

The relationship between sexual function and quality of sleep in caregiving mothers of sons with duchenne muscular dystrophy.

INTRODUCTION: The task of the caregiver, especially a caregiving mother of a son with a chronic and fatal disease, may interfere with their quality of sleep, sexuality, and some hormone levels. AIM: The aim of this study was to evaluate the sexual function and the quality of sleep of caregiving mothers of sons with Duchenne muscular dystrophy (DMD). METHODS: We evaluated 20 caregiving mothers of sons with DMD and 20 caregiving mothers of sons without any neuromuscular or chronic disease. All of them voluntarily responded to the evaluating questionnaires about their sexuality and their quality of sleep, and gave blood samples to evaluate their hormonal levels. MAIN OUTCOME MEASURES: All mothers were evaluated using the questionnaire of Female Sexual Function Index (FSFI) and the Pittsburgh questionnaire (PSQI). The blood samples were tested to determine serum levels of testosterone, estradiol, follicle-stimulating hormone, luteinizing hormone, progesterone, adrenocorticotropic hormone, and cortisol. RESULTS: Caregiving mothers of sons with DMD had significantly lower scores in the FSFI questionnaire, suggesting a higher risk for sexual dysfunction. The PSQI demonstrated that these caregiving mothers present increased sleep latency, reduced sleep efficiency, daytime dysfunction, and poor sleep quality. Blood tests showed a rise in cortisol levels, which correlated with the compromised sexuality and quality of sleep. CONCLUSIONS: This study indicates that caregiving mothers of sons with DMD show major risk for sexual dysfunction and a reduction in their quality of sleep mediated in part by the hormonal changes related to stress. Nozoe KT, Hachul H, Hirotsu C, Polesel DN, Moreira GA, Tufik S, and Andersen ML. The relationship between sexual function and quality of sleep in caregiving mothers of sons with Duchenne muscular dystrophy. Sex Med 2014;2:133-140.