Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0026850 (muscular dystrophy)
 5,870 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Because of the loss of mobility, scarring of the median nerve in the carpal tunnel can lead to chronic pain syndrome of the wrist joint, with reduced sensation, muscular dystrophy and severe limitation of the use of the hand. This syndrome most often appears following open carpal tunnel release. Nine patients with scarring of the median nerve in the carpal tunnel were treated with a hypothenar fat-pad flap. Eight of them showed a significant reduction in pain, with improved sensation, trophism and strength. The procedure is suitable as a salvage procedure for restoring a sliding pathway and for cushioning the median nerve in the presence of recurrent lesions in the carpal tunnel.
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PMID:The hypothenar fat-pad flap for reconstructive repair after scarring of the median nerve at the wrist joint. 1085 75

A purpose of the study was to develop the Stress Tolerance Scale (STS) and to assess its diagnostic efficacy in neurological clinical practice. The theoretical ground for stress tolerance measurement is the concept of personal environmental interaction as a process including phases of the subjective stress event appraisal, active reaction and subjective result appraisal. The STS encompasses the response items of the descriptions of the accomplished and unaccomplished person-environment and self-personal relations that result in stress overcoming or in stress maintenance, respectively. Within each group, the additional variants of the transactions were specified according to their space-temporal characteristics. Data sets from 112 healthy people and 247 patients (60 with chronic tension headache, 72 with chronic low back pain, 51 with myasthenia gravis, 14 with progressive muscular dystrophy, 27 with hereditary polyneuropathy and 23 with torticollis) have been analyzed. The validity and quiantitation of the STS were determined by Rasch analysis and comparison of the results with those of total STS score and subscale scores of the Hospital Anxiety and Depression Scale and Russian brief version of MMPI. All correlations were at a level of significance. A decrease of stress tolerance was found in patients with chronic pain syndromes and torticollis. The results indicate that the STS allows assessing stress tolerance and a structure of person-environment interactions used by a patient. It can be utilized for optimization of short-term psychotherapy of neurological patients.
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PMID:[Evaluation of stress tolerance in the neurological patients]. 1595 38

The peripheral nervous system (PNS), including peripheral nerves and dorsal root ganglion (DRG), is involved in numerous neurological disorders, such as peripheral neuropathies (diabetic neuropathy, chronic pain, etc.) and demyelination diseases (multiple sclerosis, congenital muscular dystrophy, Charcot-Marie-Tooth disease, etc.). Effective clinical interventions for those diseases are very limited. Gene therapy represents a novel therapeutic strategy for the PNS diseases, especially with simply and minimally invasive delivery methods. Previously, we have shown that adeno-associated virus type 8 (AAV8) can efficiently transduce muscles body wide by a simple intraperitoneal injection in neonatal mice. In this study, we investigated the capacity of AAV8 in transducing PNS in neonatal mice by intraperitoneal injection and also in adult mice by intramuscular injection. Efficient and long-term gene transfer was found in the white matter of the spinal cord, DRG neurons, and peripheral nerves in both groups, treated either as neonates or as adults, particularly neonates. In the adult mice injected with AAV8 in tibialis anterior and gastrocnemius muscles in one of the hind legs, more neurons were transduced in the lower part of the spinal cord than in the upper part; the DRG neurons were transduced more on the vector-injected side than in the contralateral uninjected side. Few cells in the gray matter of the spinal cord were transduced regardless of the delivery methods and age of the mice. These results support the mechanism of vector retrograde transport and suggest that AAV8 crosses blood-nerve barrier poorly. Our finding should have important implications in gene therapy for peripheral neurological disorders.
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PMID:Efficient retrograde transport of adeno-associated virus type 8 to spinal cord and dorsal root ganglion after vector delivery in muscle. 1971 1

To examine the prevalence and characteristics of pain in children with neuromuscular disease (NMD), 42 youths with NMD underwent a comprehensive evaluation including a detailed intake interview and structured questionnaire that included demographic and functional data. Youths who reported chronic pain were further queried about pain characteristics, locations, and intensity using an 11-point numerical rating scale and a modified Brief Pain Inventory (BPI). The sample consisted of 24 males (57%) and 18 females (43%), ages ranging from 9 to 20 years (M = 14.8, SD = 2.96). Participants included 14 (37%) with Duchenne muscular dystrophy, 6 (14%) with myotonic dystrophy, 2 (5%) with Becker dystrophy, 2 (5%) with limb-girdle dystrophy, 2 (5%) with congenital muscular dystrophy, 1 (2%) facioscapulohumeral, and 15 (36%) were classified as ''other NMD.'' Twenty-one (50%) were ambulatory; 26 (62%) used power wheelchairs/scooters, 9 (2%) used manual wheelchairs, 3 (.07%) used crutches/canes, and 1 (2%) used a walker. A total of 23 (55%) of the youths reported having chronic pain. Current pain intensity was 1.30 (range = 0-6), mean pain intensity over the past week was 2.39 (range = 0-7), mean pain duration was 8.75 hours (SD = 12.84). Pain in the legs was most commonly reported and 83% reported using pain medications. This study indicates that chronic pain is a significant problem in youths with NMD. These data strongly support making comprehensive pain assessment and management an integral part of the standard of care for youths with NMD.
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PMID:Pain in youths with neuromuscular disease. 1982 Feb 5

Alexithymia, the inability to identify or label emotions, has been shown to be associated with pain in patients with a number of chronic pain conditions. We sought to: (1) replicate this association in samples of persons with chronic pain secondary to neuromuscular disease, (2) extend this finding to other important pain-related measures, and (3) to determine whether relationships among alexithymia and study variables existed after controlling for negative affect. One hundred and twenty-nine individuals with muscular dystrophy and chronic pain were administered measures of alexithymia (Toronto Alexithymia Scale, TAS-20), pain intensity (0-10 NRS), pain interference (Brief Pain Inventory Interference scale), mental health (SF-36 Mental Health scale; as a proxy measure of negative affect) and vitality (SF-36 Vitality scale). Higher TAS scores were associated significantly with higher pain intensity and interference, and less vitality. Although the strengths of these associations were reduced when mental health was used as a control, the associations between the Difficulty Identifying Feelings scale and vitality, and the Externally Oriented Thinking and Total TAS scales and pain intensity remained statistically significant. The findings replicate and extend previous findings concerning the associations between alexithymia and important pain-related variables in a sample of persons with chronic pain and neuromuscular disease. Future research is needed to determine the extent to which the associations are due to (1) a possible causal effect of alexithymia on patient functioning that is mediated via its effects on negative affect or (2) the possibility that alexithymia/outcome relationships reflect response bias caused by general negative affectivity.
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PMID:Relationships among alexithymia and pain intensity, pain interference, and vitality in persons with neuromuscular disease: Considering the effect of negative affectivity. 2020 82

Gene therapy (GT) has tremendous potential for the treatment of neurological disorders to transform patient care. The successful application of virus-mediated GT to treat spinal muscular atrophy is a significant milestone, serving to accelerate similar progress in a spectrum of neurological conditions, with more than 50 clinical trials currently underway, across neurodevelopmental, neurodegenerative, muscular dystrophy, epilepsy, chronic pain and neoplastic diseases. This review provides an overview of the key features of virus-mediated GT, paradigms of delivery and dosing, potential risks and highlights ongoing research to optimise safe and effective delivery of vectors into the nervous system. Examples of the application of GT in various neurological diseases alongside clinical development challenges will be presented. As the development and translation of GTs gain pace, success can only ultimately be realised for patients following implementation in the health system. The challenges and controversies of daunting costs, ethics, early diagnosis and health system readiness will require innovative pricing schemes, regulatory policies, education and organisation of a skilled workforce to deliver of high-quality care in clinical practice as we prepare for advanced therapeutics in neurology.
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PMID:Great expectations: virus-mediated gene therapy in neurological disorders. 3250 84