Hereditary Breast and Ovarian Cancer (HBOC) typically arises from mutations inherited in the germline. BRCA1 and BRCA2 mutaions are predominant contributors to HBOC, accounting for the majority of cases. These mutations are associated with 10% of ovarian cancer cases and 3-5% of breast cancer cases [4]. BRCA1 …

Arrhythmogenic Cardiomyopathy (ACM), also known as arrhythmogenic right ventricular cardiomyopathy/dysplasia (ARVC/D) is a rare hereditary disease of the heart, where the connective, and fatty tissue is deposited in the muscle tissue of the ventricular myocardium primarily of the right but also left …

5% to 10% of all cancers are linked to gene mutations inherited from parents. The most common gene related to hereditary cancer is the p53 gene. It is a crucial tumor suppressor. However, the mutated gene is commonly inherited from one generation to another one. The functions of p53 resume to the activation …

Background We aimed to identify healthcare needs, expectations, utilization, and the experienced treatment effects in a population of Dutch patients with hereditary spastic paraplegia (HSP). Methods We distributed an online questionnaire among 194 adult persons with HSP in the Netherlands, of which 166 …

Background Hereditary spastic paraplegia (HSP) is a group of inherited disorders characterized by progressive spastic paresis of the lower limbs. Treatment is often focused on reducing spasticity and its physical consequences. To better address individual patients' needs, we investigated a broad range …

Background: Infantile hereditary proximal spinal muscular atrophy (SMA) type 1 is characterized by onset in the first 6 months of life and severe and progressive muscle weakness. Dysphagia is a common complication but has not been studied in detail. Objective: To study feeding and swallowing problems …

Introduction: Neuromuscular diseases (NMD) are a heterogeneous group of acquired or inherited diseases affecting the peripheral nervous system and muscle mass. The consequences of NMD are loss of muscle mass, function, and posture. Loss of muscle mass causes weakness, a decrease in mobility and cardiac …

Generalized joint hypermobility (GJH) is highly prevalent among patients diagnosed with chronic pain. When GJH is accompanied by pain in ≥4 joints over a period ≥3 months in the absence of other conditions that cause chronic pain, the hypermobility syndrome (HMS) may be diagnosed. In addition, GJH is …

Generalized joint hypermobility (GJH) is highly prevalent among patients diagnosed with chronic pain. When GJH is accompanied by pain in ≥4 joints over a period ≥3 months in the absence of other conditions that cause chronic pain, the hypermobility syndrome (HMS) may be diagnosed. In addition, GJH is …

Background: Myotonic dystrophy type 1 (MD1) is one of the most prevalent neuromuscular diseases, yet very little is known about how MD1 affects the lives of couples and how they themselves manage individually and together. To better match health care to their problems, concerns and needs, it is important …