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Results for “Neuromuscular disorders”

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At least 19 recordsLinked to original sources
PubMed1978

Electromyographic biofeedback: behavioral treatment of neuromuscular disorders.

Electromyographic biofeedback is becoming widely used to help patients regain voluntary control of specific muscles affected by neuromuscular disorders. Electromyographic feedback training has been employed in the rehabilitation of patients affected by poliomyelitis, cerebrovascular accident, torticollis, nerve injury, temporomandibular joint syndrome, bruxism, and other disorders. While EMG biofeedback appears to be a promising treatment technique, the research literature on its effectiveness consists mainly of uncontrolled case reports and clinical trials. It is concluded that new studies with more sophisticated design and more careful control are needed to demonstrate that EMG biofeedback makes a unique contribution to the treatment of neuromuscular disorders. Research is needed to identify relevant patients characteristics predictive of success, specify appropriate muscle groups for the treatment of particular disorders, determine how feedback can be most efficiently combined with more conventional techniques in achieving a therapeutic effect, and establish meaningful criteria of success in the treatment of neuromuscular disorders.

Behavior Therapy↗
PubMedDate not supplied

Stapedius muscle function tests in the diagnosis of neuromuscular disorders.

Muscle weakness and different patterns of fatigability are frequently seen in neuromuscular disorders. The value of a battery of stapedial muscle function tests in the diagnosis and management of these disorders has been evaluated. Each test of stapedial muscle function is described, and case examples of these tests in various neuromuscular disorders including myasthenia gravis and idiopathic facial nerve paralysis are reported.

Acoustic Impedance Tests↗
PubMed1977

Evaluation of research needs in nephrology in urology. Obstructive and neuromuscular disorders affecting the urinary system.

Obstructive and neuromuscular disorders are common problems of the urinary tract. They cause considerable morbidity and some mortality. In all problem areas research efforts have been and continue to be limited. The principal reason for the lack of research efforts in these areas is the lack of trained established investigators interested in the problems of the urinary tract. Unfortunately, most basic scientists with the research and investigative background to solve many of these problems see them as mundane and not worthy of investigation. In addition, these same basic scientists are out of touch with clinical urologic diseases and probably do not appreciate the magnitude of the problems. In our opinion the solution is 2-fold: to train qualified investigators in urology and nephrology, and to interest, educate and collaborate with the basic scientists about these clinical problems of the urinary tract.

Action Potentials↗
PubMed1978

Nemaline bodies in a progressive infantile neuromuscular disorder.

Nemaline bodies are described in a case of a progressive neuromuscular disorder, which is difficult to classify. The clinical syndrome is not characteristic of a nemaline myopathy. It is argued that the finding of nemaline bodies is in itself not specific of any neuromuscular disease.

Child↗
PubMed1977

[The staircase phenomenon in myasthenia gravis and other neuromuscular disorders (author's transl)].

The isometric contractions with repetitive stimulation of 2/sec during 90 sec have been recorded in 39 patients with neuromuscular disorders other than myasthenia gravis. Seven patients had falling amplitudes of the contractions, in 14 cases the increase was below 12 per cent and 21 patients had a normal staircase phenomenon. It is recommended to take only a falling of the contraction amplitudes as an important indication for myasthenia gravis. This finding, however, is not specific and in the indivisual case it has to be considered in combination with the other clinical, electro-physiological and histological findings.

Adolescent↗
PubMed1976

Neuromuscular disorder associated with a defect in mitochondrial energy supply.

A limb muscle biopsy specimen from a patient with a slowly progressive congenital neuromuscular disorder disclosed, by electron microscopy, widespread mitochondrial crystalline inclusions. Biochemical studies of isolated mitochondria showed decreased respiratory rate and respiratory control with both nicotine adenine dinucleotide and flavor-protein-linked substrates. Mitochondrial adenosine triphosphatase (ATPase) activity, both basal and magnesium (Mg++) or 2,4-dinitrophenol- (DNP) stimulated, was greatly reduced in contrast to normal. The rate and extent of mitochondrial calcium accumulation was normal. These findings are consistent with a defect of the respiratory chain-linked energy transfer at a level common to all three energy coupling sites of the respiratory chain. The defect in ATPase activity may be secondary to replacement of functional mitochondrial inner membrane by crystalline inclusions.

Adenosine Triphosphatases↗
PubMed2026

289th ENMC international workshop: assessing and managing emerging AAV related toxicities after gene therapy for neuromuscular disorders, 26 - 28 September 2025, Hoofddorp, The Netherlands.

Adeno-associated virus (AAV) mediated gene therapies has emerged as a potentially transformative treatment approaches for neuromuscular disorders, with two FDA-approved products now in widespread clinical use: onasemnogene abeparvovec (Zolgensma) for spinal muscular atrophy and delandistrogene moxeparvovec-rokl (Elevidys) for Duchenne Muscular Dystrophy. However, severe and occasionally fatal adverse events affecting vital organs, including the blood, liver, muscle, and heart, have emerged in both clinical trials and real-world post marketing settings. The 289th European NeuroMuscular Centre (ENMC) workshop convened 38 participants from patient advocacy groups, industry, and preclinical and clinical research groups to collaboratively review these toxicities, their underlying mechanisms, and potential mitigation and monitoring strategies. Discussions addressed the clinical spectrum and biological drivers of these events, the respective roles of innate and adaptive immunity, the contribution of specific vector characteristics as well as of the specific disease and recipient. The application of risk stratification and immunosuppressive regimens for prevention, monitoring, and management were considered. Emerging toxicities, including capillary leak syndrome, endothelial and dorsal root ganglia injuries, were reviewed alongside corresponding preclinical data from non-human primates. Participants agreed on the need to harmonize standard operating procedures, clinical guidelines, and data-sharing practices, and endorsed collaborative initiatives to proactively address critical gaps and unresolved key questions through a patient-centered framework.

Adaptive immune response↗
PubMed1978

Chronic paleocerebellar stimulation for the treatment of neuromuscular disorders. Four case report.

4 patients suffering severe neuromuscular diseases were subjected to a subtentorial implantation of electrodes over the anterior cerebellar lobe surface. Chronic stimulation was applied for 90 min to 7 h daily, with a rate of 20--180 Hz, 6--10 V and a schedule of 15 min "on", 15 min "off". Some improvement was observed in 3 patients treated with high frequency stimulation. 1 patient suffered seizures after three months of chronic stimulation. In 2 cases, posterior fossa explorations were necessary for revision of the stimulation apparatus and marked meningeal proliferation surrounding the electrodes was observed. Light and electron microscopic examination of the biopsies showed loss of Purkinje cells and gliofibrillar reaction. Effectiveness and side effects of chronic stimulation of the cerebellum are discussed.

Adult↗
PubMed1979

[Neuromuscular disorders in hypothyroidism].

The authors conducted a clinico-electrophysiological study of 177 patients with hypothyrosis of different etiology in order to investigate the nature of neuromuscular disturbances in this disease. Neuromuscular disturbances in these patients are shown in the form of hypothyroid myopathy, hypothyroid pseudomyopathy, combinations of hypothyroid myopathy with pseudomyopathy and hypothyroid pathological muscular fatiguability. The mechanism of origin of this pathology is considered and the efficiency of complex treatment of neuromuscular disturbances in hypothyrosis is demonstrated.

Adult↗
PubMed1975

Remediable neuromuscular disorders.

Generalized muscular weakness may develop from a variety of causes, and in many cases is reversible with appropriate treatment of the underlying disorder.

Adult↗
PubMed1979

Debrancher deficiency: neuromuscular disorder in 5 adults.

Five patients, 4 men and 1 woman, had adult-onset and slowly progressive weakness. There was distal wasting in 2, hepatomegaly in 3, and congestive heart failure in 2. Electromyography showed a mixed pattern with abundant fibrillations. Serum creatine phosphokinase was increased 5- to 45-fold. Blood glucose failed to respond to epinephrine or glucagon, and venous lactate did not rise after ischemic exercise. Muscle biopsy showed vacuolar myopathy affecting both fiber types. By electron microscopy the vacuoles corresponded to large pools of glycogen not limited by a membrane. Glycogen concentration was 3 to 5 times normal in muscle and 7 to 21 times normal in erythrocytes. In the presence of iodine, muscle glycogen showed a spectrum characteristic of phosphorylase-limit-dextrin. Debrancher activity was measured by a spectrophotometric assay and by a radioactive reverse reaction. The activity was lacking in muscle and erythrocytes of 4 patients according to both assays; in 1 patient the reverse reaction was not impaired. Though previously reported in only 5 patients, debrancher deficiency myopathy may not be rare and should be considered in the differential diagnosis of adult-onset hereditary myopathies.

Adolescent↗