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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. [ABSTRACT FROM AUTHOR]

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.

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. [ABSTRACT FROM AUTHOR]

Muscle cramps are a common problem characterized by a sudden, painful, and involuntary contraction of a muscle or muscle group. Most muscle cramps develop in the calf muscles, particularly in situations of prolonged exercise; however, some may be related to underlying systemic conditions such as the hereditary angiopathy with nephropathy, aneurysms, and muscle cramps (HANAC) syndrome. Muscle cramps appear to be the initial symptom of the HANAC syndrome; however, the clinical characteristics of these muscle cramps have rarely been described in detail. We report a familial case of autosomal-dominant muscle cramps in four members of a Japanese family spanning across three generations. The muscle cramps were recognized as systemic symptoms of the HANAC syndrome associated with a novel COL4A1 pathogenic variant, NM_001845:c.1538G > A, p.(Gly513Asp). The four affected individuals indicated that the first episodes of the muscle cramps occurred in early childhood. In addition, they reported that the muscle cramps are characterized by an abrupt onset of severe pain without muscle contraction. The painful recurrent attacks occurred spontaneously in various muscles throughout the body, but rarely in the calf muscle. The muscle pain lasts for several minutes, cannot be ameliorated by stretching the affected muscle, and leaves a feeling of discomfort that lasts for 24–48 h. The serum creatine kinase levels of the patients were persistently elevated; however, their electromyography results did not reveal any specific abnormalities. Recognition of the clinical characteristics of the muscle cramps in the HANAC syndrome may facilitate early diagnosis of the syndrome and enable proper treatment of the patients, improve their long-term outcomes, and facilitate the design and adaption of appropriate genetic counseling. [ABSTRACT FROM AUTHOR]

BackgroundHemodialysis sessions frequently become unstable from complications such as intradialytic hypotension and untoward symptoms. Previous patient safety initiatives promote prevention of treatment complications; yet, they have placed little specific focus on avoidable session instability. A patient-centered definition of session instability grounded in patient experiences, and an understanding of patient perceptions of causes and solutions to instability, may enable such efforts.MethodsTwenty-five participants participated in three focus groups and/or a survey. They were purposively sampled for variation in region of residence, and sensitivity to patient well-being. Focus group recordings were analyzed using descriptive coding, in vivo coding, and thematic analysis.ResultsPatients define unstable sessions ("bad runs") as those in which they experience severe discomfort or unanticipated events that interfere with their ability to receive therapy. Bad runs were characterized primarily by cramping, low blood pressure ("crashing"), cannulation-related difficulties ("bad sticks"), and clotting of the dialysis circuit or vascular access. Patients believed that cramping and crashing could be explained by both patient and clinician behavior: patient fluid consumption and providers' fluid removal goals. Patients felt that the responsibility for cannulation-related problems lay with dialysis staff, and they asked for different staff or self-cannulated as solutions. Clotting was viewed as an idiosyncratic issue with one's body, and perceived solutions were clinician-driven. Patients expressed concern about "bad runs" on their ability to achieve fluid balance.ConclusionsFindings point to novel priorities for efforts to enhance hemodialysis session stability, and areas in which patients can be supported to become involved in such efforts.