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2.
Hemodial Int ; 28(4): 405-418, 2024 Oct.
Artículo en Inglés | MEDLINE | ID: mdl-39013840

RESUMEN

INTRODUCTION: Leg muscle cramps and compromised sleep patterns are prevalent issues experienced by individuals undergoing hemodialysis treatment. The aim of this study was to assess the impact of massage therapy on hemodialysis patients experiencing cramping, specifically focusing on the frequency and severity of cramps, as well as the quality of sleep. METHODS: This research involved 36 hemodialysis patients. The intervention group received intradialytic massage targeting the lower extremities, administered three times a week for a total of six sessions over a 2-week period. Data collection utilized a Patient Information Form, the Pittsburgh Sleep Quality Index, the Visual Analog Scale, and a Patient Follow-Up Form. FINDINGS: The study revealed a significant reduction in both the frequency and severity of cramps experienced by patients in the intervention group during hemodialysis sessions and at home, from the end of one session to the beginning of the next, compared to the control group (p < 0.05). This effect was observed over the course of six dialysis sessions. Additionally, there was a notable decrease in the mean total score of the Pittsburgh Sleep Quality Index (PSQI) among participants in the intervention group, declining from 9.00 ± 3.79 prior to massage therapy to 5.94 ± 2.84 post-massage (p < 0.001). Conversely, no significant change was observed in the control group, highlighting a notable disparity between the intervention and control groups in terms of sleep quality improvement. DISCUSSION: The investigation revealed that employing intradialytic massage on the lower extremities led to a reduction in both the frequency and severity of cramps, while also eliciting a positive impact on the sleep quality of patients undergoing hemodialysis.


Asunto(s)
Masaje , Calambre Muscular , Diálisis Renal , Calidad del Sueño , Humanos , Masaje/métodos , Femenino , Masculino , Diálisis Renal/efectos adversos , Diálisis Renal/métodos , Persona de Mediana Edad , Calambre Muscular/etiología , Anciano , Adulto
3.
J Sports Med Phys Fitness ; 64(9): 961-969, 2024 Sep.
Artículo en Inglés | MEDLINE | ID: mdl-38842373

RESUMEN

BACKGROUND: The prevalence of a history of exercise-associated muscle cramping (hEAMC) among ultramarathon runners is high. While the Comrades is one of the most popular mass community-based participation ultramarathons (90 km) globally, research on the epidemiology, clinical characteristics, and risk factors of entrants' lifetime hEAMC are scarce. This research aimed to describe the epidemiology, clinical characteristics, and risk factors of hEAMC among Comrades Marathon entrants. METHODS: This was a retrospective, cross-sectional study in which 10973 race entrants of the 2022 Comrades Marathon participated. Entrants completed a prerace medical screening questionnaire that included questions related to the lifetime prevalence (%; 95% CI), severity, treatment and risk factors (demographics, training/racing variables, chronic disease/allergies, injury) for EAMC. RESULTS: One thousand five hundred eighty-two entrants reported hEAMC in their lifetime (14.4%; 95% CI: 13.77-15.09). There was a significantly (P<0.01) higher prevalence of male (16.10%; 95% CI:15.34-16.90) than female (8.31%; 95% CI: 7.27-9.50) entrants with hEAMC (PR=1.94; 95% CI:1.68-2.23). The prevalence of hEAMC was highest in entrants with a: 1) 1 disease increase in composite disease score (PR=1.31; 95% CI:1.25-1.39); 2) history of collapse (PR=1.87; 95% CI 1.47-2.38); 3) past chronic musculoskeletal (MSK) injury (PR=1.71; 95% CI 1.50-1.94); and 4) MSK injury in the previous 12 months (PR=2.38;95% CI: 2.05-2.77). Training-related risk factors included an increase of 10 km weekly running distance (PR=0.97; 95% CI:0.95-0.99) and a training pace increase of 1min/ km (slower) (PR=1.07; 95% CI:1.03-1.12). CONCLUSIONS: Future research should investigate the causal relationship between risk factors identified and hEAMC in ultramarathon runners. Findings from this study could assist in effective anticipation and adequate planning for treating EAMC encounters during community-based mass participation events.


Asunto(s)
Carrera de Maratón , Calambre Muscular , Humanos , Masculino , Factores de Riesgo , Estudios Transversales , Femenino , Estudios Retrospectivos , Carrera de Maratón/lesiones , Calambre Muscular/epidemiología , Calambre Muscular/etiología , Adulto , Enfermedad Crónica , Persona de Mediana Edad , Prevalencia , Factores Sexuales , Encuestas y Cuestionarios
4.
Liver Int ; 44(9): 2434-2441, 2024 Sep.
Artículo en Inglés | MEDLINE | ID: mdl-38860445

RESUMEN

BACKGROUND: Muscle cramps are common among persons with cirrhosis and are associated with poor health-related quality of life (HRQOL). Treatment options are limited. We compared stretching or meditation in a randomized-controlled trial (RCT). PATIENTS: We enrolled 98 patients with a history of >4 muscle cramps in the prior month from 7/22-7/23. We randomized patients 1:1 to stretching versus meditation for 35 days. Our primary outcome was the change in cramp severity measured by the visual analogue scale for cramps (VAS-cramps, scaled 0-10). Secondary outcomes included a patient global impression of change (PGIC), change in sleep quality and global HRQOL measured using the EQ-5D and VAS-global HRQOL. RESULTS: Overall, 48% of patients had cirrhosis, 40% had diabetes, 16% the median age was 63, most were women (67%) and 81% were college educated. Both arms experienced a reduction in cramp severity-a median of 1.44 (.58-2.29) points for stretching and 1.97 (1.01-2.93) points for meditation. These changes were significant changes from baseline (p = .001 for stretching, p < .0001 for meditation) but these changes were equivalent between arms (p = .4). The PGIC was improved: 1.33 (1.02-1.65) for stretching, 1.05 (.70-1.41) for meditation, p-difference .2. Sleep was also improved for both. HRQOL did not change according to the Eq5D; according to the VAS, HRQOL rose for meditation by 6 (.1-11.8) points but not for stretching. More patients recommended stretching than meditation (79.2% vs. 55.3%, p = .02). CONCLUSION: In a randomized trial, stretching and meditation both reduced cramp severity and improved sleep quality and global impression of change. While patients preferred stretching, there was no difference in effect between arms.


Asunto(s)
Meditación , Calambre Muscular , Ejercicios de Estiramiento Muscular , Calidad de Vida , Humanos , Femenino , Masculino , Persona de Mediana Edad , Calambre Muscular/terapia , Calambre Muscular/etiología , Anciano , Calidad del Sueño , Resultado del Tratamiento , Índice de Severidad de la Enfermedad
5.
J Assoc Physicians India ; 72(1): 108-109, 2024 Jan.
Artículo en Inglés | MEDLINE | ID: mdl-38736085

RESUMEN

A 15-year-old girl arrived with her father. She reported experiencing discomfort and cramps in her right arm while writing for the past 3 months. Her father had observed a palpable lump medially in her right mid-arm. She mentioned variations in the size of the lump on occasion. She denied experiencing any notable pain in the lump.


Asunto(s)
Calambre Muscular , Humanos , Femenino , Calambre Muscular/etiología , Calambre Muscular/diagnóstico , Adolescente , Brazo , Escritura
6.
J Acupunct Meridian Stud ; 17(2): 47-54, 2024 Apr 30.
Artículo en Inglés | MEDLINE | ID: mdl-38686428

RESUMEN

Background: Patients with chronic kidney disease, as a common disorder, usually necessitate the implementation of hemodialysis. Muscle cramps are one of the most disabling complications affecting their quality of life. Objectives: We aimed to investigate the efficacy of acupuncture as a safe alternative to the management of pain severity and frequency of calf cramps in dialysis patients compared to a control group. Methods: Fifty dialysis patients experiencing calf cramps who met the eligibility criteria were randomly allocated to two groups. Group A received routine management, including analgesic consumption, stretching exercises, and nine acupuncture sessions, including acupoints BL57, GV26, CV4, CV6, LV3, KI 1, LU7, LU9, and GB34. Group B underwent sham acupuncture therapy at locations other than the primary acupoints in addition to following the specified routine management. The pain severity was measured using the visual analog scale (VAS), and the daily frequency of calf cramps was evaluated at baseline and one month after treatment completion. Results: VAS scores and the frequency of calf cramps were improved one month after treatment completion in both groups. However, the improvement was significant in group A (p < 0.001), while it was not statistically significant in group B (p > 0.05). There was also a significant difference between both groups regarding reducing pain and the frequency of calf cramps, which showed the efficacy of acupuncture compared to the control group (p < 0.0001). Conclusion: Acupuncture can decrease pain and frequency of calf cramps in dialysis patients.


Asunto(s)
Terapia por Acupuntura , Calambre Muscular , Diálisis Renal , Humanos , Femenino , Persona de Mediana Edad , Masculino , Calambre Muscular/etiología , Calambre Muscular/terapia , Terapia por Acupuntura/métodos , Diálisis Renal/efectos adversos , Adulto , Manejo del Dolor/métodos , Resultado del Tratamiento , Puntos de Acupuntura , Anciano , Insuficiencia Renal Crónica/terapia , Insuficiencia Renal Crónica/complicaciones , Insuficiencia Renal Crónica/fisiopatología , Dolor/etiología , Dimensión del Dolor
7.
MMW Fortschr Med ; 166(6): 66, 2024 04.
Artículo en Alemán | MEDLINE | ID: mdl-38581524
8.
J Emerg Med ; 66(4): e467-e469, 2024 Apr.
Artículo en Inglés | MEDLINE | ID: mdl-38462393

RESUMEN

BACKGROUND: Literature on systemic envenomation caused by tarantula bites, particularly from the Theraphosidae family, is relatively scarce. This case report provides a formal description of the first known instance of systemic envenomation caused by the Socotra Island Blue Baboon Tarantula (Monocentropus balfouri). CASE REPORT: In this case, a 23-year-old employee of an exotic pet shop suffered from perioral paresthesia, generalized muscle cramps, and rhabdomyolysis because of a Monocentropus balfouri bite. His symptoms were successfully relieved with oral benzodiazepines. EMERGENCY PHYSICIAN BE AWARE OF THIS?: This case highlights the potential for serious complications resulting from the bite of Monocentropus balfouri, a species gaining popularity among global exotic pet collectors.


Asunto(s)
Rabdomiólisis , Picaduras de Arañas , Arañas , Animales , Humanos , Adulto Joven , Adulto , Calambre Muscular , Picaduras de Arañas/complicaciones , Parestesia/etiología , Espasmo , Rabdomiólisis/complicaciones
9.
Eur J Oncol Nurs ; 69: 102540, 2024 Apr.
Artículo en Inglés | MEDLINE | ID: mdl-38461728

RESUMEN

PURPOSE: This study aimed to explore the incidence and severity of vincristine-induced peripheral neuropathy (VIPN) in non-Hodgkin lymphoma (NHL) survivors (primary aim) and its impact on daily life by comparing common cancer symptoms, functional status, and quality of life (QoL) among survivors with acute, long-term, and non-VIPN (secondary aim). METHODS: This cross-sectional study examined 144 NHL survivors. Standardized questionnaires were used to assess common cancer symptoms, functional status, and QoL with the European Organization for the Research and Treatment of Cancer - Quality of Life Questionnaire (EORTC-QLQ-C30). VIPN (Chemotherapy-Induced Peripheral Neuropathy) status was classified using EORTC-QLQ-CIPN20. A self-designed interference scale was developed to determine the impact of the VIPN on daily activities. The Kruskal-Wallis test and Spearman rank correlation were used in this study. RESULTS: Among the survivors of acute and long-term VIPN, the highest incidences and most severe symptoms were found for hand numbness and foot cramps. A significant moderate correlation was found between disturbances in daily activities and acute or long-term VIPN, including gait changes, going up or down the stairs, and imbalance-related falls. Acute and long-term VIPN survivors showed worse symptoms (fatigue, insomnia, and constipation) and lower QoL than non-VIPN survivors did. In acute VIPN, social function was significantly affected, whereas in long-term VIPN, emotional and cognitive functions were affected. CONCLUSION: Numbness and cramps should be addressed in survivors of acute and long-term VIPN. Preventing falls is recommended for NHL survivors with VIPN, and psychological support is suggested for long-term VIPN survivors.


Asunto(s)
Linfoma no Hodgkin , Neoplasias , Enfermedades del Sistema Nervioso Periférico , Humanos , Vincristina/efectos adversos , Calidad de Vida/psicología , Estudios Transversales , Estado Funcional , Hipoestesia , Calambre Muscular , Linfoma no Hodgkin/tratamiento farmacológico , Linfoma no Hodgkin/psicología , Sobrevivientes , Enfermedades del Sistema Nervioso Periférico/inducido químicamente , Enfermedades del Sistema Nervioso Periférico/epidemiología
10.
Cerebellum ; 23(4): 1498-1508, 2024 Aug.
Artículo en Inglés | MEDLINE | ID: mdl-38324175

RESUMEN

Cerebellar ataxia, neuropathy, and vestibular areflexia syndrome (CANVAS) is an autosomal recessive multisystem neurologic disorder caused by biallelic intronic repeats in RFC1. Although the phenotype of CANVAS has been expanding via diagnostic case accumulation, there are scant pedigree analyses to reveal disease penetrance, intergenerational fluctuations in repeat length, or clinical phenomena (including heterozygous carriers). We identified biallelic RFC1 ACAGG expansions of 1000 ~ repeats in three affected siblings having sensorimotor neuronopathy with spinocerebellar atrophy initially presenting with painful muscle cramps and paroxysmal dry cough. They exhibit almost homogeneous clinical and histopathological features, indicating motor neuronopathy. Over 10 years of follow-up, painful intractable muscle cramps ascended from legs to trunks and hands, followed by amyotrophy and subsequent leg pyramidal signs. The disease course combined with the electrophysical and imagery data suggest initial and prolonged hyperexcitability and the ensuing spinal motor neuron loss, which may progress from the lumbar to the rostral anterior horns and later expand to the corticospinal tract. Genetically, heterozygous ACAGG expansions of similar length were transmitted in unaffected family members of three successive generations, and some of them experienced muscle cramps. Leukocyte telomere length assays revealed comparatively shorter telomeres in affected individuals. This comprehensive pedigree analysis demonstrated a non-anticipating ACAGG transmission and high penetrance of manifestations with a biallelic state, especially motor neuronopathy in which muscle cramps serve as a prodromal and disease progress marker. CANVAS and RFC1 spectrum disorder should be considered when diagnosing lower dominant motor neuron disease, idiopathic muscle cramps, or neuromuscular hyperexcitability syndromes.


Asunto(s)
Calambre Muscular , Linaje , Proteína de Replicación C , Humanos , Calambre Muscular/genética , Masculino , Femenino , Proteína de Replicación C/genética , Adulto , Persona de Mediana Edad , Japón , Enfermedad de la Neurona Motora/genética , Vestibulopatía Bilateral/genética , Ataxias Espinocerebelosas/genética , Expansión de las Repeticiones de ADN/genética , Pueblos del Este de Asia
11.
Molecules ; 29(3)2024 Jan 27.
Artículo en Inglés | MEDLINE | ID: mdl-38338356

RESUMEN

The status of parsley as a well-known folk medicine noted for its nutritional and medicinal properties prompted the exploration of its potential as a functional food and natural remedy. The paper aims to investigate the potential of parsley to enhance muscle function and alleviate psoriasiform dermatitis, eventually establishing it as a natural, well-tolerated alternative with specific benefits for both muscles and skin. This study examines the tolerability of parsley in a cohort of 937 participants by assessing immunoglobulin G (IgG) reactions. The findings reveal high tolerability, as 96.26% of participants experienced no adverse effects. Among the 902 individuals lacking hypersensitivity, 37.02% reported muscle cramps, with a notable 15.02% reduction observed in the subgroup consuming parsley juice. In the subset of 32 subjects with dermatitis, the application of parsley extract ointment led to a significant decrease in dermatological parameters (redness, thickness, scaling). While the control group exhibited improvements, statistical significance was not observed. Notably, four categories of affected area reduction were identified, with scaling demonstrating the most pronounced impact. The results propose that parsley holds promise for favorable tolerability, contributing to the alleviation of muscle cramps and presenting an effective alternative in dermatitis treatment. Nonetheless, sustained validation through long-term studies is imperative to substantiate these preliminary findings.


Asunto(s)
Dermatitis , Alimentos Funcionales , Humanos , Petroselinum , Calambre Muscular/tratamiento farmacológico , Extractos Vegetales/farmacología , Extractos Vegetales/uso terapéutico , Dermatitis/tratamiento farmacológico
13.
Transplant Cell Ther ; 30(3): 338.e1-338.e6, 2024 Mar.
Artículo en Inglés | MEDLINE | ID: mdl-38182005

RESUMEN

Muscle cramps in patients with chronic graft-versus-host disease (cGVHD) are common and associated with impaired quality of life and symptom burden. Muscle cramps are not currently captured in the 2014 National Institutes of Health (NIH) response criteria, and thus characterization and response to immunomodulatory therapies are lacking. The objective of this study was to characterize muscle cramp frequency, duration, and pain level in patients with steroid-refractory cGVHD undergoing extracorporeal photopheresis (ECP). A single-center cohort of patients who underwent ECP for the indication of steroid-refractory cGVHD with muscle cramps at treatment initiation were followed from April 2021 to April 2023. Of 22 patients receiving ECP for cGVHD during the study period, 9 (41%) had muscle cramps at ECP initiation (6 males [66%]; median age, 59 years; range, 25 to 66 years). Seven of these 9 patients (78%) had multiple organs involved, and 7 (78%) had severe disease by the NIH Global Severity scale. Over a median treatment duration of 28 weeks (range, 10 to 48 weeks), 8 patients (89%) had decreased frequency of muscle cramps from a median of 5 episodes per week (range, 3 per day to 2 per week) to a median of <1 episode per week (range, 1 per month to 3 per week). The pain and duration of muscle cramps were not changed meaningfully. The NIH Global Severity score remained unchanged in 6 patients (67%) and was improved in 3 patients (33%). Muscle cramping is a morbid feature of cGVHD that may be sensitive to change with standard immunomodulatory therapies. Muscle cramp frequency should be further validated as a response measure in cGVHD.


Asunto(s)
Síndrome de Bronquiolitis Obliterante , Enfermedad Injerto contra Huésped , Estados Unidos , Masculino , Humanos , Persona de Mediana Edad , Calambre Muscular/etiología , Calambre Muscular/terapia , Calidad de Vida , Enfermedad Injerto contra Huésped/terapia , Inmunomodulación , Dolor , Esteroides
14.
J Sport Rehabil ; 33(1): 49-52, 2024 Jan 01.
Artículo en Inglés | MEDLINE | ID: mdl-37758261

RESUMEN

CLINICAL SCENARIO: Exercise-associated muscle cramps (EAMC) are sudden, painful, and involuntary contractions of skeletal muscles during or after physical activity. The best treatment for EAMC is gentle static stretching until abatement. Stretching is theorized to relieve EAMC by normalizing alpha motor neuron control, specifically by increasing Golgi tendon organ activity, and physically separating contractile proteins. However, it is unclear if stretching or flexibility training prevents EAMC via the same mechanisms. Despite this, many clinicians believe prophylactic stretching prevents EAMC occurrence. CLINICAL QUESTION: Do athletes who experience EAMC during athletic activities perform less prophylactic stretching or flexibility training than athletes who do not develop EAMC during competitions? SUMMARY OF KEY FINDINGS: In 3 cohort studies and 1 case-control study, greater preevent muscle flexibility, stretching, or flexibility training (ie, duration, frequency) was not predictive of who developed EAMC during competition. In one study, athletes who developed EAMC actually stretched more often and 9 times longer (9.8 [23.8] min/wk) than noncrampers (1.1 [2.5] min/wk). CLINICAL BOTTOM LINE: There is minimal evidence that the frequency or duration of prophylactic stretching or flexibility training predicts which athletes developed EAMC during competition. To more effectively prevent EAMC, clinicians should identify athletes' unique intrinsic and extrinsic risk factors and target those risk factors with interventions. STRENGTH OF RECOMMENDATION: Minimal evidence from 3 prospective cohort studies and 1 case-control study (mostly level 3 studies) that suggests prophylactic stretching or flexibility training can predict which athletes develop EAMC during athletic competitions.


Asunto(s)
Calambre Muscular , Ejercicios de Estiramiento Muscular , Humanos , Calambre Muscular/etiología , Calambre Muscular/prevención & control , Calambre Muscular/epidemiología , Estudios Prospectivos , Estudios de Casos y Controles , Músculo Esquelético
16.
J Int Soc Sports Nutr ; 21(1): 2296888, 2024 Dec.
Artículo en Inglés | MEDLINE | ID: mdl-38131124

RESUMEN

OBJECTIVE: The purpose of this study was to examine the acute effects of a multi-ingredient, low calorie dietary supplement (MIDS, XTEND® Healthy Hydration) on 5-kilometer (5-km) time trial performance and blood electrolyte concentrations compared to a carbohydrate-electrolyte beverage (CE, GATORADE® Thirst Quencher) and distilled water (W). METHODS: During visit 1 (V1), participants (10 men and 10 women, 20-35 years old, BMI ≤ 29 kg/m2, recreationally active) reported to the laboratory whereby the following tests were performed: i) height and weight measurements, ii) body composition analysis, iii) treadmill testing to measure maximal aerobic capacity, and iv) 5-km time trial familiarization. The second visit (V2) was one week after V1 in the morning (0600 - 0900) and participants arrived 12-14 h fasted (no food or drink). The first battery of assessments (V2-T1) included nude body mass, urine specific gravity (USG), a profile of mood states (POMS) questionnaire, and the completion of a visual analogue scale (VAS) questionnaire to quantify cramping. Then heart rate (HR), blood pressure (BP), total body hydration (via bioelectrical impedance spectroscopy [BIS]) were examined. Finally, a measurement of blood markers via finger stick was performed. Participants consumed a randomized beverage (16 fl. oz. of MIDS, 16 fl. oz. of W, or 16 fl. oz. of CE) within 3 min followed by a 45-min rest. Following the rest period, a second battery (V2-T2) was performed whereby participants' USG was assessed and they completed the POMS and VAS questionnaires, and HR, BP, and blood markers were measured. The participants then performed a 5-km treadmill time trial. Immediately following the 5-km time trial, participants completed a third testing battery (V2-T3) that began with blood markers, HR and BP assessments, followed by nude body weight assessment, and the POMS and VAS questionnaires. After 60 min, a fourth battery (V2-T4) was performed that included HR, BP, and blood markers. After sitting quietly for another 60 min a fifth battery assessment was performed (V2-T5) that included participants' USG, POMS and VAS questionnaires, HR, BP, blood markers, and total body hydration. Visits 3 (V3) and 4 (V4) followed the same protocol except a different randomized drink (16 oz. of CE, MIDS, or W) was consumed; all of which were separated by approximately one week. RESULTS: No differences occurred between conditions for 5-km time trial completion, indirect calorimetry outcomes during 5-km time trials, USG, or nude mass measurements (p > 0.05 for all relevant statistical tests). However, blood potassium and the sodium/potassium ratio displayed significant interactions (p < 0.05), and post hoc testing indicated these values were better maintained in the MIDS versus other conditions. Post-exercise cramp prevalence was greater in the CE (p < 0.05) and trended higher with W (p = 0.083) compared to the MIDS condition. Post-exercise cramp severity was also elevated with the W and CE beverages (p < 0.05) but not the MIDS (p = 0.211). CONCLUSIONS: The MIDS did not affect 5-km time trial performance but exhibited favorable effects on blood electrolyte and post-exercise self-reporting cramp outcomes compared to the CE and W drinks.


Asunto(s)
Equilibrio Hidroelectrolítico , Agua , Adulto , Femenino , Humanos , Masculino , Adulto Joven , Aminoácidos , Bebidas , Carbohidratos de la Dieta/farmacología , Electrólitos , Calambre Muscular , Potasio , Distribución Aleatoria
17.
J Pak Med Assoc ; 73(12): 2473-2475, 2023 Dec.
Artículo en Inglés | MEDLINE | ID: mdl-38083936

RESUMEN

McArdle's disease (Glycogen storage disease type V) is a rare inherited autosomal recessive disease involving defect in enzyme, glycogen phosphorylase (PYGM) which results in accumulation of glycogen mainly affecting skeletal muscles. It commonly presents in childhood and rarely in adults with symptoms like exercise intolerance, muscle weakness, cramps and fatigue. Herein, we report an unusual case of a 22 years old male in Pakistan with probable McArdle's Disease presenting with repeated episodes of generalized cramping muscle pain, exercise intolerance and haematuria. The diagnostic approach to identifying this disease as well as the differentials of other rare types of skeletal muscle disorders that should be kept in mind while dealing with a similar clinical picture, irrespective of the age of presentation, have been discussed.


Asunto(s)
Enfermedad del Almacenamiento de Glucógeno Tipo V , Humanos , Masculino , Adulto Joven , Adulto , Enfermedad del Almacenamiento de Glucógeno Tipo V/complicaciones , Enfermedad del Almacenamiento de Glucógeno Tipo V/diagnóstico , Músculo Esquelético , Debilidad Muscular/etiología , Fatiga , Calambre Muscular/etiología
18.
J Clin Neuromuscul Dis ; 25(2): 81-84, 2023 Dec 01.
Artículo en Inglés | MEDLINE | ID: mdl-37962194

RESUMEN

ABSTRACT: Isaac syndrome is one of the rare peripheral nerve hyperexcitability (PNH) syndromes, which manifests with gross fasciculations, muscle undulation, twitching, and cramps, with or without autonomic and sensory symptoms. The diagnosis relies on characteristic electromyogram findings and the presence of anti-leucine-rich glial inactivated 1 and anti-contactin-associated protein 2 antibodies in the serum. Here, we report the case of a 21-year-old woman, who presented with extremities and tongue myokymia whose electromyogram findings were compatible with PNH, albeit seronegative for antibodies. Neuromuscular ultrasound was performed showing high-frequency rotatory, to-and-fro, high-amplitude movement of superficial and deep muscle fascicles, more prominent in the proximal than distal muscles. Neuromuscular ultrasound may be a useful adjunct in the diagnosis of PNH.


Asunto(s)
Síndrome de Isaacs , Miocimia , Femenino , Humanos , Adulto Joven , Autoanticuerpos , Síndrome de Isaacs/diagnóstico por imagen , Calambre Muscular , Músculo Esquelético , Miocimia/diagnóstico por imagen , Nervios Periféricos
19.
Hum Genet ; 142(12): 1747-1754, 2023 Dec.
Artículo en Inglés | MEDLINE | ID: mdl-37957369

RESUMEN

Machado-Joseph disease (MJD/SCA3) is the most frequent dominant ataxia worldwide. It is caused by a (CAG)n expansion. MJD has two major ancestral backgrounds: the Machado lineage, found mainly in Portuguese families; and the Joseph lineage, present in all five continents, probably originating in Asia. MJD has been described in a few African and African-American families, but here we report the first diagnosed in Sudan to our knowledge. The proband presented with gait ataxia at age 24; followed by muscle cramps and spasticity, and dysarthria, by age 26; he was wheel-chair bound at 29 years of age. His brother had gait problems from age 20 years and, by age 21, lost the ability to run, showed dysarthria and muscle cramps. To assess the mutational origin of this family, we genotyped 30 SNPs and 7 STRs flanking the ATXN3_CAG repeat in three siblings and the non-transmitting father. We compared the MJD haplotype segregating in the family with our cohort of MJD families from diverse populations. Unlike all other known families of African origin, the Machado lineage was observed in Sudan, being shared with 86 Portuguese, 2 Spanish and 2 North-American families. The STR-based haplotype of Sudanese patients, however, was distinct, being four steps (2 STR mutations and 2 recombinations) away from the founder haplotype shared by 47 families, all of Portuguese extraction. Based on the phylogenetic network constructed with all MJD families of the Machado lineage, we estimated a common ancestry at 3211 ± 693 years ago.


Asunto(s)
Enfermedad de Machado-Joseph , Masculino , Humanos , Adulto Joven , Adulto , Enfermedad de Machado-Joseph/genética , Enfermedad de Machado-Joseph/diagnóstico , Portugal , Calambre Muscular , Disartria , Filogenia , África Oriental
20.
Dtsch Arztebl Int ; 120(37): 615, 2023 09 15.
Artículo en Inglés | MEDLINE | ID: mdl-37811847
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