Occurrence of symptoms in different stages of Duchenne muscular dystrophy and their impact on social participation

Abstract

Introduction/Aims: As life expectancy improves for patients with Duchenne muscular dystrophy (DMD), new symptoms are likely to arise. This aims of this study are: (1) to explore the prevalence of a broad variety of symptoms in the various stages of DMD (with and without steroid use); (2) to explore the prevalence of common secondary diagnoses; and (3) to evaluate the social participation level of patients with DMD older than 16 y of age; and to explore correlations between social participation and symptoms.Methods: A cross-sectional self-report questionnaire, including questions on functional level and health status, as well as a standardized participation scale was distributed among Dutch patients with DMD.Results: Eighty-four male patients with a mean age of 22.0 (SD = 10.0) y were enrolled. The most prevalent and limiting symptoms were difficulty coughing (58%), coldness of hands (57%), contractures (51%), stiffness (49%), fatigue (40%), myalgia (38%), and low speech volume (33%). Prevalent secondary diagnoses included cardiac disease (14%), neurobehavioral diagnosis (13%), low blood pressure (13%), and arthrosis (5%). Social participation correlated negatively with coldness of hands (r = À .29; P < .03), decreased intelligibility (r = À .40; P < .003), and chewing problems (r = À .33; P < .02).Discussion: The prevalence of a broad spectrum of symptoms and secondary diagnoses is high in patients with DMD, and some of these symptoms are correlated with social participation. Growing awareness of new symptoms and secondary diagnoses among patients, caregivers, and professionals can enhance their recognition, possibly facilitating prevention and early treatment.

Long‐term outcomes for females with early‐onset dystrophinopathy

“…The USER‐P scores of our participants are comparable to patients with spinal muscular atrophy and spinal cord injury 29,39 . In comparison, male patients with DMD report more restrictions in social activities instead of in vocational items, and they are also relatively satisfied 21 . We hypothesize that females with dystrophinopathy have higher expectations from work and household activities than their male peers and therefore feel more restricted.…”

“…29,39 In comparison, male patients with DMD report more restrictions in social activities instead of in vocational items, and they are also relatively satisfied. 21 We hypothesize that females with dystrophinopathy have higher expectations from work and household activities than their male peers and therefore feel more restricted. However, they report high satisfaction, which may be the reason why they do not easily ask for support or have rehabilitation goals.…”

“…We used the list of symptoms that was previously used in males with Duchenne muscular dystrophy (DMD), 21 and supplemented these with specific female topics such as 'menstrual problems' and 'pregnancy'. The list evaluated the occurrence of symptoms and their impact or perceived burden What this paper adds on daily activities on a scale from 1 to 10, which was calculated in percentages (0-100%).…”

Identification of Novel Gene Regulatory Networks for Dystrophin Protein in Vascular Smooth Muscle Cells by Single-Nuclear Transcriptome Analysis

“…Recent reports have revealed that DMD patients often show low systolic blood pressure [ 16 , 17 ], and DMD patients with heart failure are also more susceptible to angiotensin receptor/neprilysin inhibitor with recurrent hypotension until discontinuation of this medication [ 6 ], suggesting that DMD might play a critical role in regulating blood pressure. However, a previous dog study [ 18 ], which generated some controversy, reported significantly increased systolic blood pressure in anesthetized dogs affected with X-linked muscular dystrophy (GRDM) after the administration of cisatracurium, a non-depolarizing neuromuscular blocking drug [ 18 ].…”

Clinique : L’impact des symptômes musculaires et extramusculaires de la myopathie de Duchenne sur la vie sociale

“…Bien que ces nouvelles complications n'engagent que rarement le pronostic vital, elles ont probablement un impact majeur sur la vie sociale des patients. Afin d'étudier la prévalence et l'impact de ces symptômes chez les patients DMD à différents stades de leur maladie, les auteurs de l'article cité en référence [1] ont mené une étude transversale au sein d'une population de patients néerlandais au moyen d'un auto-questionnaire, le Careful Care Questionnaire, développé sur la base des recommandations internationales (échelles TREAT-NMD) et d'autres échelles validées dans la DMD. Le stade de la maladie était coté d'après l'échelle définie par Bushby et al [2] qui se base sur les échelles fonctionnelles de Brooke (score fonctionnel évaluant la fonction des membres supérieurs) et de Vignos (évaluant la fonction des membres inférieurs).…”