An Assessment of the Knowledge, Attitudes, and Practices of Patients and Families with Diagnoses of Hereditary Neuromuscular Disorders

Abstract

Background: Hereditary neuromuscular disorders (NMDs) result in progressive disability with no definitive disease modifying treatments. There is a delay in diagnosis, and lack of awareness among affected individuals about these disorders, which can affect quality of life of patients. Objective: The aim of this study is to identify gaps in patient knowledge, factors affecting attitudes toward the diagnoses, and specific practices to create better awareness among patients and healthcare providers to improve care and overall outcomes. Methods: This is a cross-sectional study of 130 patients diagnosed with an NMD, recruited from the outpatient neurology clinics at the Aga Khan University Hospital. After telephonic consent, a 28 item survey questionnaire was administered. Knowledge, attitude, and practice scores were measured. Results: One hundred and thirty of 198 study participants responded. The average age was 26.3 years; 75% were male. More than 38% (n = 50) had a middle grade or less education. The average knowledge, attitude, and practice scores were 7.9, 2.7, and 3.8 respectively. There was a low but statistically significant correlation between knowledge-attitude and attitude-practice scores. Almost 80% of respondents believed that dystrophy or spinal muscular atrophy is curable, while a majority considered that physical activity should be avoided. Conclusions: Our study presents new insights into the role of clarifying misconceptions about NMD and to correct attitudes among patients, their families and communities. It underscores the need for early interventions with demonstrably positive effects on disease progression such as physical therapy, as well as emphasizes the provision of accessible and affordable centers for such services.