1 January 2003
There is an increasing awareness of sleep dysfunction in neuromuscular disorders. Most of the sleep disturbances in neuromuscular disorders are secondary to sleep disordered breathing. Sleepdisordered breathing in neuromuscular disorders is commonly...
Neuromuscular disorders are a large group of rare pathologies characterised by skeletal muscle atrophy and weakness, with the common involvement of respiratory and/or cardiac muscles. These diseases lead to life-long motor deficiencies and specific o...
Inherited neuromuscular disorders (INMD) are a heterogeneous group of rare diseases that involve muscles, motor neurons, peripheral nerves or the neuromuscular junction. Several different lab abnormalities have been linked to INMD: sometimes they are...
Neuromuscular disorders (NMDs) affect 1 in 3000 people worldwide. There are more than 150 different types of NMDs, where the common feature is the loss of muscle strength. These disorders are classified according to their neuroanatomical location, as...
The neuromuscular junction (NMJ) is the target of a variety of immune-mediated disorders, usually classified as presynaptic and postsynaptic, according to the site of the antigenic target and consequently of the neuromuscular transmission alteration....
Neuromuscular disorders, characterized by progressive muscle degeneration and weakness, present substantial challenges to both affected individuals and their families. Genetic testing assumes a pivotal role in facilitating early diagnosis, interventi...
Autoimmune neuromuscular diseases are a group of heterogenous pathologies secondary to the activation of the immune system that damage the structures of the peripheric nerve, the neuromuscular junction, or the skeleton muscle. The diagnosis of autoim...
Multiple sclerosis (MS) is a chronic immune-mediated demyelinating disorder of the central nervous system, traditionally considered distinct from neuromuscular diseases, which primarily affect the peripheral nervous system, neuromuscular junction, or...
Neuro-muscular disorders include a variety of diseases induced by genetic mutations resulting in muscle weakness and waste, swallowing and breathing difficulties. However, muscle alterations and nerve depletions involve specific molecular and cellula...
Neuromuscular disorders (NMDs) encompass a broad range of hereditary and acquired conditions that affect motor units, significantly impacting patients’ quality of life and reproductive health. This narrative review aims to explore in detail the...
Pediatric-onset neuromuscular diseases (NMDs) represent a clinically and genetically heterogeneous group of rare disorders, often posing significant diagnostic challenges due to overlapping phenotypes. Next-generation sequencing (NGS), particularly w...
Mental disorders are observed in neuromuscular diseases, especially now that patients are living longer. Psychiatric symptoms may be severe and psychopharmacological treatments may be required. However, very little is known about pharmacotherapy in t...
Innovative targeted treatments for neuromuscular disorders (NMDs) can dramatically improve the course of illness. Diagnostic delay, however, is a major impediment. Here, we present a pilot project aimed at assessing the feasibility of a screening pro...
Mitochondrial dysfunction is considered the major contributor to skeletal muscle wasting in different conditions. Genetically determined neuromuscular disorders occur as a result of mutations in the structural proteins of striated muscle cells and th...
Ultrasonography is a safe, non-invasive imaging technique used in several fields of medicine, offering the possibility to longitudinally monitor disease progression and treatment efficacy over time. This is particularly useful when a close follow-up...
Neuromuscular diseases are genetically highly heterogeneous, and differential diagnosis can be challenging. Over a 3-year period, we prospectively analyzed 268 pediatric and adult patients with a suspected diagnosis of inherited neuromuscular disorde...
Neuromuscular disorders cause progressive muscular weakness, which limits upper extremity mobility and performance during activities of daily life. Dynamic arm supports can improve mobility and quality of life. However, their use is often discontinue...
Children with neuromuscular disorders (NMDs) are at high risk for respiratory complications due to impaired cough and weakness of respiratory muscles. Effective cough is essential for airway clearance, infections’ prevention, and maintaining lu...
Background/Objectives: Scoliosis surgery in pediatric patients, particularly those with neuromuscular disorders, is associated with increased perioperative risk due to respiratory insufficiency, cardiovascular comorbidities, and nutritional deficienc...
Neuromuscular disorders (NMDs) encompass a large heterogeneous group of hereditary and acquired diseases primarily affecting motor neurons, peripheral nerves, and the skeletal muscle system. The symptoms of NMDs may vary depending on the specific con...
Novel genetic variants exist in patients with hereditary neuromuscular disorders (NMD), including muscular dystrophy. These patients also develop cardiac manifestations. However, the association between these gene variants and cardiac abnormalities i...
Over the past two decades, advances in molecular genetics, immunology, neuroimaging, fluid biomarkers, and artificial intelligence have substantially transformed the diagnosis, classification, and treatment of neuromuscular disorders. However, increa...
Neuromuscular disorders (NMDs) are highly heterogenous from both an etiological and clinical point of view. Their signs and symptoms are often multisystemic, with frequent cardiac involvement. In fact, childhood onset forms can predispose a person to...
Upper gastrointestinal concerns including gastroparesis-like symptoms affect a large portion of the population, and determining the culprit condition can be difficult due to largely shared symptoms, clinical course, pathophysiology, and treatment pat...
Neuromuscular disorders (NMDs), such as amyotrophic lateral sclerosis (ALS), spinal muscular atrophy (SMA), and muscular dystrophies (e.g., Duchenne muscular dystrophy, DMD), are primarily driven by genetic mutations but are critically modulated by e...
Peripheral nerve disorder of the lower extremities causes drop foot and disturbs the daily living activities of patients. The ankle joint hybrid assistive limb (HAL) provides voluntary ankle joint training using surface bioelectrical signals from the...
Background/Objectives: Increasing evidence shows an involvement of brain plasticity mechanisms in both motor and central manifestations of neuromuscular disorders (NMDs). These mechanisms could be specifically addressed with neuromodulation or rehabi...
Mechanical insufflation-exsufflation (MI-E) is essential for secretion clearance, especially in neuromuscular disorders. For the best outcomes, initiation of MI-E should be started at the correct time with regular evaluation to the response to treatm...
8 March 2023
Non-invasive ventilation (NIV) is a critical therapy for many patients with neuromuscular disorders (NMD), supporting those with respiratory failure to achieve adequate respiration and improve their quality of life. The aim of this study was to explo...
Pain in masticatory muscles is one of the most frequent symptoms in patients with temporomandibular disorders (TMD) and can lead to changes in the patterns of neuromuscular activity of masticatory muscles and decrease in bite force. This study assess...
Amyotrophic lateral sclerosis (ALS) represents a neurodegenerative disorder characterized by the progressive loss of both upper and lower motor neurons, resulting in muscular atrophy and eventual paralysis. While much research has concentrated on inv...
Neuromuscular disorders (NMD) lead to the progressive loss of motor and respiratory functions and a decline in daily activities and participation. We aimed to evaluate respiratory changes and functional outcomes in children attending an aquatic thera...
SLC35A2-CDG is a congenital disorder of glycosylation caused by mutations in the SLC35A2 gene encoding a Golgi-localized UDP-galactose transporter. This transporter plays an essential role in glycan synthesis by transporting UDP-galactose from the cy...
Congenital Myasthenic Syndrome represents a complex and heterogeneous group of inherited neuromuscular disorders, which result from variants in genes involved in different pathophysiological mechanisms related to the neuromuscular junction. LRP4 (Low...
6 April 2020
Background: In patients with neuromuscular disorder, only little data of myalgia frequency and characterization exists. To date, only a weak correlation between pain intensity and pressure pain threshold has been found, and it remains enigmatic wheth...
Neuromuscular diseases are multifactorial pathologies characterized by extensive muscle fiber damage that leads to the activation of satellite cells and to the exhaustion of their pool, with consequent impairment of neurobiological aspects, such as c...
The loss of one of the two copies of the 9 bp tandem repeat sequence (CCCCCTCTA) located in the small non-coding region between the cytochrome oxidase II (COII) and the lysine tRNA genes in human mtDNA has been reported to be polymorphic in Asian, Oc...
Children with neuromuscular diseases present unique challenges to providing safe and appropriate perioperative care. Given the spectrum of disease etiologies and manifestations, this is a population that often requires specialized multidisciplinary c...
In recent years, clustered regularly interspaced short palindromic repeats (CRISPRs) and CRISPR-associated (Cas) protein have emerged as a revolutionary gene editing tool to treat inherited disorders affecting different organ systems, such as blood a...
Fatigue is a major determinant of quality of life and motor function in patients affected by several neuromuscular diseases, each of them characterized by a peculiar physiopathology and the involvement of numerous interplaying factors. This narrative...
Since the emergence of SARS-CoV-2, several studies have been published describing neuromuscular manifestations of the disease, as well as management of pre-existing pediatric neuromuscular disorders during the COVID-19 pandemic. These disorders inclu...
This review examines the evolving role of muscle biopsy in the diagnosis of neuromuscular disorders in the era of modern genomic medicine. Historically the cornerstone of myopathy diagnosis, muscle biopsy enabled structural, histochemical, and ultras...
We carried out a comparison of the neuromuscular and clinical effects produced by electrostimulation therapies, as an adjuvant to the use of occlusal splints (removable muscle relaxation apparatus) in patients with temporomandibular disorders In this...
The term neuromuscular disorder (NMD) includes many genetic and acquired diseases and differential diagnosis can be challenging. Next-generation sequencing (NGS) is especially useful in this setting given the large number of possible candidate genes,...
Pediatric neurological disorders comprise a highly heterogeneous group of conditions that together represent a substantial global public health burden. Many have a strong genetic basis and are associated with significant morbidity, premature mortalit...
The chaperone (or chaperoning) system (CS) constitutes molecular chaperones, co-chaperones, and chaperone co-factors, interactors and receptors, and its canonical role is protein quality control. A malfunction of the CS may cause diseases, known as t...
Sleep disordered breathing (SDB) in children with neuromuscular disease (NMD) is more prevalent compared to the general population, and often manifests as sleep-related hypoventilation, sleep-related hypoxemia, obstructive sleep apnea, central sleep...
Background: Adequate hamstring flexibility is crucial for musculoskeletal health as increased muscle tone can lead to stretch-type injuries, muscle weakness, dysfunctional neuromuscular control, postural changes, and lower back pain. The aim was to c...
This systematic review aims to investigate the relationship between muscle mass and specific health outcomes in pediatric populations with neuromuscular disorders. A search was performed for any relevant studies published in English from 1996 to 2023...
Neuromuscular disorders (NMDs) encompass a heterogeneous group of acquired and inherited conditions affecting motor neurons, peripheral nerves, neuromuscular junctions, and skeletal muscle [...]
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