neuromuscular disorder

BACKGROUND AND PURPOSE: Spinal muscular atrophy (SMA) is a rare and progressive neuromuscular disorder with varying severity levels. The aim of the study was to calculate minimal clinically important difference (MCID), minimal detectable change (MDC), and values for the Hammersmith Functional Motor Scale Expanded (HFMSE) in an untreated international SMA cohort. METHODS: The study employed two distinct methods. MDC was calculated using distribution-based approaches to consider standard error of measurement and effect size change in a population of 321 patients (176 SMA II and 145 SMA III), allowing for stratification based on age and function...

BACKGROUND: Friedreich ataxia is a rare genetic disorder associated with progressive mitochondrial dysfunction leading to widespread sequelae including ataxia, muscle weakness, hypertrophic cardiomyopathy, diabetes mellitus, and neuromuscular scoliosis. Children with Friedreich ataxia are at high risk for periprocedural complications during posterior spinal fusion due to their comorbidities. AIM: To describe our single-center perioperative management of patients with Friedreich ataxia undergoing posterior spinal fusion...

BACKGROUND: Clinically, patients with myasthenia gravis are generally treated with drugs to improve their physical condition, and poor medication adherence can hinder their recovery. Many studies have shown the importance of medication adherence for effective treatment. Various factors may affect a patient's medication adherence; however, studies concerning medication adherence in patients with myasthenia gravis are rare. OBJECTIVES: This study aimed to identify the factors related to medication adherence in patients with myasthenia gravis, and determine the possibility of predicting medication adherence...

OBJECTIVES: Spinal muscular atrophy (SMA) is an autosomal recessive disease that is one of the most common in childhood neuromuscular disorders. Our screenings are more meaningful programs in preventing birth defects, providing a significant resource for healthcare professionals, genetic counselors, and policymakers involved in designing strategies to prevent and manage SMA. METHOD: We screened 39,647 participants from 2020 to the present by quantitative real-time PCR, including 7,231 pre-pregnancy participants and 32,416 pregnancy participants, to detect the presence of SMN1 gene EX7 and EX8 deletion in the DNA samples provided by the subjects...

Duchenne muscular dystrophy is a neuromuscular disease caused by DMD gene mutations that result in an absence of functional dystrophin protein. Patients with Duchenne experience progressive muscle weakness, are typically wheelchair dependent by their early teens, and develop respiratory and cardiac complications that lead to death in their twenties or thirties. Becker muscular dystrophy is also caused by DMD gene mutations, but symptoms are less severe and progression is slower compared with Duchenne. We describe a case study of a patient with Becker muscular dystrophy who was still ambulant at age 61 years and had a milder phenotype than Duchenne, despite 46% of his DMD gene being missing...

Bi-allelic variants in VWA1, encoding Von Willebrand Factor A domain containing 1 protein localized to the extracellular matrix (ECM), were linked to a neuromuscular disorder with manifestation in child- or adulthood. Clinical findings indicate a neuromyopathy presenting with muscle weakness. Given that pathophysiological processes are still incompletely understood, and biomarkers are still missing, we aimed to identify blood biomarkers of pathophysiological relevance: white blood cells (WBC) and plasma derived from six VWA1-patients were investigated by proteomics...

BACKGROUND: Duchenne's muscular dystrophy (DMD) is a severe type of hereditary, neuromuscular disorder caused by a mutation in the dystrophin gene resulting in the absence or production of truncated dystrophin protein. Conventionally, clinical descriptions of the disorder focus principally on striated muscle defects; however, DMD manifestations involving gastrointestinal (GI) smooth muscle have been reported, even if not rigorously studied. PURPOSE: The objective of the present review is to offer a comprehensive perspective on the existing knowledge concerning GI manifestations in DMD, focusing the attention on evidence in DMD patients and mdx mice...

BACKGROUND: To evaluate whether ongoing axonal loss can be prevented in multifocal motor neuropathy (MMN) treated with immunoglobulin G (IgG), a group of patients with a median disease duration of 15.7 years (range: 8.3-37.8), treated with titrated dosages of immunoglobulins, was studied electrophysiologically at time of diagnosis and at follow-up. RESULTS: At follow-up, the Z-score of the compound motor action potential amplitude of the median, fibular, and tibial nerves and the neurological performances were determined...

Duchenne muscular dystrophy (DMD) is a rare neuromuscular disorder diagnosed in childhood. Limited newborn screening in the US often delays diagnosis. With multiple FDA-approved therapies, early diagnosis is crucial for timely treatment but may entail other benefits and harms. Using a community-based survey, we explored how parents of siblings with DMD perceived early diagnosis of one child due to a prior child's diagnosis. We assessed parents' viewpoints across domains including diagnostic journey, treatment initiatives, service access, preparedness, parenting, emotional impact, and caregiving experience...

Pediatric swallowing disorders are common yet often overlooked neuro-muscular system diseases that significantly impact the quality of life and development of affected children. This study aims to explore the effect of combined application of oral rehabilitation training and neuromuscular electrical stimulation on improving pediatric swallowing disorders. Children meeting the inclusion criteria for swallowing disorders were divided into control and experimental groups based on different intervention protocols...

BACKGROUND: Spinal muscular atrophy (SMA) is a rare, progressive, neuromuscular disorder. Recent advances in treatment require an updated assessment of burden to inform reimbursement decisions. OBJECTIVES: To quantify healthcare resource utilisation (HCRU) and cost of care for patients with SMA. METHODS: Cohort study of patients with SMA identified in the Swedish National Patient Registry (2007-2018), matched to a reference cohort grouped into four SMA types (1, 2, 3, unspecified adult onset [UAO])...

OBJECTIVE: To investigate the clinical efficacy of dapoxetine combined with transcutaneous neuromuscular electrical stimulation (TNES) in the treatment of primary premature ejaculation. METHODS: A total of 60 patients who met the diagnostic criteria for primary premature ejaculation were selected as study subjects and randomly divided into a dapoxetine group (control group) and a dapoxetine combined with percutaneous neuromuscular electrical stimulation group (observation group)...

Myotonic dystrophy (DM) encompasses a spectrum of neuromuscular diseases characterized by myotonia, muscle weakness, and wasting. Recent research has led to the recognition of DM as a neurological disorder. Cognitive impairment is a central nervous system condition that has been observed in various forms of DM. Neuroimaging studies have increasingly linked DM to alterations in white matter (WM) integrity and highlighted the relationship between cognitive impairment and abnormalities in WM structure. This review aims to summarize investigations into cognitive impairment and brain abnormalities in individuals with DM and to elucidate the correlation between these factors and the potential underlying mechanisms contributing to these abnormalities...

Temporomandibular disorders are multi-factorial conditions affected by psychological, biomechanical, and neuromuscular factors. Stress and anxiety experienced during the pandemic are capable of influencing and aggravating temporomandibular disorders and orofacial pain. The study aimed to analyze whether the coronavirus infection can directly affect these diseases. All participants were asked to complete the Pain Screener and Patients Health Questionnaire and were assigned to Group I: healthy participants and Group 2: participants with existing complaints...

Scoliosis is a common complication of neuromuscular disorders. These patients are frequently recalcitrant to nonoperative treatment. When treated surgically, they have the highest risk of complications of all forms of scoliosis. While recent studies have shown an improvement in the rate of complications, they still remain high ranging from 6.3 to 75% depending upon the underlying etiology and the treatment center (Mohamad et al. in J Pediatr Orthop 27:392-397, 2007; McElroy et al. in Spine, 2012; Toll et al...

BACKGROUND: Adolescent idiopathic scoliosis (AIS) is the most common vertebral disorder in adolescence. OBJECTIVES: The purpose of this study was to compare the effectiveness of Schroth and Lyon exercise methods on Cobb angle (CA), angle of trunk rotation (ATR), quality of life (QoL), and perceived trunk appearance in patients with AIS. METHODS: The 31 participants diagnosed (diagnosis age = 12.2 ± 0.9) with AIS by a physician following the Lenke criteria and subsequently referred to the outpatient clinic were enrolled in the study...

BACKGROUND: Duchenne muscular dystrophy (DMD) is a neuromuscular disorder with progressive decline of pulmonary function increasing the risk of early mortality. The aim of this study was to explore the respiratory-related comorbidities, and the effect of these comorbidities and treatments on life expectancy and causes of death. METHODS: All male patients living in Sweden with DMD, born and deceased 1970-2019, were included. Data regarding causes of death were collected from the Cause of Death Registry and cross-checked with the medical records along with diagnostics and relevant clinical features...

Azathioprine is recommended as the first-line steroid-sparing immunosuppressive agent for myasthenia gravis. Mycophenolate and methotrexate are often considered as second-line choices despite widespread consensus on their efficacy. We aimed to gather real-world data comparing the tolerability and reasons for discontinuation for these agents, by performing a national United Kingdom survey of side effects and reasons for discontinuation of immunosuppressants in myasthenia gravis. Of 235 patients, 166 had taken azathioprine, 102 mycophenolate, and 40 methotrexate...

This case report documents the comprehensive management of a 21-year-old female resident of Gadchiroli presenting with a 10-day history of fever, altered consciousness, and neurological sequelae following a traumatic incident. The patient exhibited a Glasgow Coma Scale score of 6/15, hypotonia in both upper and lower limbs, diminished deep tendon reflexes, and respiratory complications. This case study describes a thorough physiotherapeutic strategy that focuses on tone facilitation and muscle weakness improvement...

Cherubism, a rare autosomal dominant disorder, presents with symmetrical, painless jaw extension due to fibrous tissue ossification, often referred to as hereditary fibrous dysplasia of the jaw. It typically manifests with progressive mandibular and maxillary swelling from childhood to adolescence, with exacerbation over time. A 20-year-old male presented with facial and jaw swelling, causing restricted jaw movements. Computed tomography confirmed the cherubism diagnosis. Subsequently, the patient underwent oral surgery for bone shaving and shaping...