Harnessing the Power of Artificial Intelligence in Neuromuscular Disease Rehabilitation: A Comprehensive Review and Algorithmic Approach

Neuromuscular diseases present profound challenges to individuals and healthcare systems worldwide, profoundly impacting motor functions. This research provides a comprehensive exploration of how artificial intelligence (AI) technology is revolutionizing rehabilitation for individuals with neuromuscular disorders. Through an extensive review, this paper elucidates a wide array of AI-driven interventions spanning robotic-assisted therapy, virtual reality rehabilitation, and intricately tailored machine learning algorithms. The aim is to delve into the nuanced applications of AI, unlocking its transformative potential in optimizing personalized treatment plans for those grappling with the complexities of neuromuscular diseases. By examining the multifaceted intersection of AI and rehabilitation, this paper not only contributes to our understanding of cutting-edge advancements but also envisions a future where technological innovations play a pivotal role in alleviating the challenges posed by neuromuscular diseases. From employing neural-fuzzy adaptive controllers for precise trajectory tracking amidst uncertainties to utilizing machine learning algorithms for recognizing patient motor intentions and adapting training accordingly, this research encompasses a holistic approach towards harnessing AI for enhanced rehabilitation outcomes. By embracing the synergy between AI and rehabilitation, we pave the way for a future where individuals with neuromuscular disorders can access tailored, effective, and technologically-driven interventions to improve their quality of life and functional independence.

Editorial Electrophysiological, pathological, and molecular study in diagnosis of neuromuscular disease

Neuromuscular disorders are commonly encountered in neurological practices. They may lead tosignificant disability or death. The accurate and early diagnosis of a cause is very important for the effective treatment and reduction in the disability and improved quality of life. A comprehensive history and physical examination is essential to aid classification of the neuromuscular disorder. In some instances, the diagnosis of a specific neuromuscular condition can be made entirely on clinical grounds, such as a patient with carpal tunnel syndrome, while in many cases the presenting symptoms are nonspecific and could be the result of several possible etiologies, such as a patient with generalized weakness that may be the result of a myopathy, neuromuscular junction disorder, peripheral neuropathy, or motor neuron disease. Therefore,

Clinical Effects of Hydrogen Administration: From Animal and Human Diseases to Exercise Medicine

Here we review the literature on the effects of molecular hydrogen (H2) on normal human subjects and patients with a variety of diagnoses, such as metabolic, rheumatic, cardiovascular and neurodegenerative and other diseases, infections and physical and radiation damage as well as effects on aging and exercise. Although the effects of H2 have been studied in multiple animal models of human disease, such studies will not be reviewed in depth here. H2 can be administered as a gas, in saline implants or infusions, as topical solutions or baths or by drinking H2-enriched water. This latter method is the easiest and least costly method of administration. There are no safety issues with hydrogen;it has been used for years in gas mixtures for deep diving and in numerous clinical trials without adverse events, and there are no warnings in the literature of its toxicity or long-term exposure effects. Molecular hydrogen has proven useful and convenient as a novel antioxidant and modifier of gene expression in many conditions where oxidative stress and changes in gene expression result in cellular damage.

Challenges in the diagnosis of intestinal neuronal dysplasia type B:A look beyond the number of ganglion cells

Intestinal neuronal dysplasia type B(IND-B)is a controversial condition among gastrointestinal neuromuscular disorders.Constipation is its most common clinical manifestation in patients.Despite intense scientific research,there are still knowledge gaps regarding the diagnostic criteria for IND-B in the histopathological analysis of rectal biopsies.The guidelines published in the past three decades have directed diagnostic criteria for quantifying the number of ganglion cells in the nervous plexus of the enteric nervous system.However,it is very complex to distinguish numerically what is pathological from what is normal,mainly because of the difficulty in determining a reliable control group composed of healthy children without intestinal symptoms.Thus,a series of immunohistochemical markers have been proposed to assist in the histopathological analysis of the enteric nervous system.Several of these markers facilitate the identification of other structures of the enteric nervous system,in addition to ganglion cells.These structures may be related to the etiopathogenesis of IND-B and represent new possibilities for the histopathological diagnosis of this disease,providing a view beyond the number of ganglion cells.This review critically discusses the aspects related to the disease definitions and diagnostic criteria of this organic cause of constipation.

Collagen VI-related myopathy with scoliosis alone: A case report and literature review

BACKGROUND Scoliosis is a complex three-dimensional deformity of spine and one of the common complications of collagen VI-related myopathy,caused by mutations in collagen type VI alpha 1 chain(COL6A1),COL6A2,and COL6A3 genes.The typical clinical presentations of collagen VI-related myopathy include weakness,hypotonia,laxity of distal joints,contractures of proximal joints,and skeletal deformities.CASE SUMMARY A 28-year-old female presented with scoliosis for 28 years without weakness,hypotonia,laxity of distal joints,and contracture of proximal joints.Computed tomography and magnetic resonance imaging revealed hemivertebra,butterfly vertebra,and the missing vertebral space.Patients underwent orthopedic surgery and paravertebral muscle biopsy.The Cobb angle dropped from 103.4°to 52.9°.However,the muscle biopsy showed neurogenic muscular atrophy with myogenic lesions,suggesting congenital muscular dystrophy.Gene analysis indicated that mutations in COL6A1(c.1612-10G>A)and COL6A2(c.115+10G>T,c.2749G>A).Immunohistochemistry staining for collagen VI displayed shallow and discontinuous.Eventually,the patient was diagnosed as collagen VI-related myopathy.CONCLUSION This newly found subtype of collagen VI-related myopathy has no typical manifestations;however,it is characterized by severe scoliosis and congenital vertebral deformity.

Intestinal neuronal dysplasia type B:A still little known diagnosis for organic causes of intestinal chronic constipation

Intestinal neuronal dysplasia type B(IND-B) is a controversial entity among the gastrointestinal neuromuscular disorders. It may occur alone or associated with other neuropathies, such as Hirschsprung's disease(HD). Chronic constipation is the most common clinical manifestation of patients. IND-B primarily affects young children and mimics HD, but has its own histopathologic features characterized mainly by hyperplasia of the submucosal nerve plexus. Thus, IND-B should be included in the differential diagnoses of organic causes of constipation. In recent years, an increasing number of cases of IND-B in adults have also been described, some presenting severe constipation since childhood and others with the onset of symptoms at adulthood. Despite the intense scientific research in the last decades, there are still knowledge gaps regarding definition, pathogenesis, diagnostic criteria and therapeutic possibilities for IND-B. However, in medical practice, we continue to encounter patients with severe constipation or intestinal obstruction who undergo to diagnostic investigation for HD and their rectal biopsies present hyperganglionosis in the submucosal nerve plexus and other features, consistent with the diagnosis of IND-B. This review critically discusses aspects related to the disease definitions, pathophysiology and genetics, epidemiology distribution, clinical presentation, diagnostic criteria and therapeutic possibilities of this still little-known organic cause of intestinal chronic constipation.

Survey of Long-Term Sequelae in Survivors of a Malignant Hyperthermia Reaction

BACKGROUND: Malignant Hyperthermia (MH) is a potentially fatal, autosomal dominant disorder associated with administration of volatile anesthetics and/or the depolarizing paralytic succinylcholine. Symptoms include muscle rigidity, tachycardia, elevated body temperature, and metabolic acidosis, which are secondary to accelerated skeletal muscle metabolism. MH susceptibility can be a chronic condition, and some MH susceptible patients may develop symptoms subsequent to anesthetic exposure. OBJECTIVE: This is the first study examining the sequelae of an MH event after hospital discharge. METHODS: A survey was sent to patients who voluntarily registered with the North American Malignant Hyperthermia Registry, which included questions on severity of symptoms predominating prior to the MH event, one month after the MH event, and presently on a scale of 1 - 10 with a free text option to expound further. Participants were also asked about their opinions on causality between MH and these symptoms. RESULTS: Twenty-three responses were analyzed (34.8% response rate). Participants were categorized by their age at the time of the MH event and years since the event. Most (83%) stayed in the ICU between 1 - 4 days, and 39% experienced the event over 25 years ago. While 43% did not attribute any long-term symptoms to their MH event, all others believed that certain symptoms were linked, including muscle pain (90%), muscle cramps (75%), muscle weakness (100%), back/joint pain (36%) and depression/anxiety (42%). CONCLUSIONS: Our study concluded that long-lasting morbidities may be attributed to an MH event. Chronic musculoskeletal symptoms are experienced by the majority of patients who experience acute MH.