4.4 Article

RIPPLING IS NOT ALWAYS ELECTRICALLY SILENT IN RIPPLING MUSCLE DISEASE

期刊

MUSCLE & NERVE
卷 43, 期 4, 页码 601-605

出版社

WILEY
DOI: 10.1002/mus.21947

关键词

caveolin-3; electrically silent; electromyography; percussion-induced rapid muscle contraction; rippling muscle disease

资金

  1. Ministry of Education, Culture, Sports, Science and Technology of Japan [20591022]
  2. Grants-in-Aid for Scientific Research [20591022, 23591273, 23591275] Funding Source: KAKEN

向作者/读者索取更多资源

Rippling muscle disease (RMD) is a myopathy with hyperirritability, the pathophysiology for which is uncertain. We report electromyographic findings in a 30-year-old man with RMD. Clinical features included muscle rippling and percussion-induced rapid muscle contractions. Both were associated with bursts of short-duration, low-amplitude spikes, which resembled single muscle fiber discharges. Our case stands in contrast to previously reported cases, which showed either electrical silence or motor unit potential discharges associated with rippling, and may represent muscle fiber hyperexcitability. Muscle Nerve 43: 601-605, 2011

作者

我是这篇论文的作者
点击您的名字以认领此论文并将其添加到您的个人资料中。

评论

主要评分

4.4
评分不足

次要评分

新颖性
-
重要性
-
科学严谨性
-
评价这篇论文

推荐

Review Genetics & Heredity

A review of major causative genes in congenital myopathies

Masashi Ogasawara, Ichizo Nishino

Summary: This review focuses on congenital myopathies, a genetically heterogeneous group of hereditary muscle diseases. Recent advances in molecular genetics have increased the number of known causative genes, and promising findings have indicated the potential for therapy development for certain types of congenital myopathies.

JOURNAL OF HUMAN GENETICS (2023)

Article Genetics & Heredity

RNA-seq analysis, targeted long-read sequencing and in silico prediction to unravel pathogenic intronic events and complicated splicing abnormalities in dystrophinopathy

Mariko Okubo, Satoru Noguchi, Tomonari Awaya, Motoyasu Hosokawa, Nobue Tsukui, Megumu Ogawa, Shinichiro Hayashi, Hirofumi Komaki, Madoka Mori-Yoshimura, Yasushi Oya, Yuji Takahashi, Tetsuhiro Fukuyama, Michinori Funato, Yousuke Hosokawa, Satoru Kinoshita, Tsuyoshi Matsumura, Sadao Nakamura, Azusa Oshiro, Hiroshi Terashima, Tetsuro Nagasawa, Tatsuharu Sato, Yumi Shimada, Yasuko Tokita, Masatoshi Hagiwara, Katsuhisa Ogata, Ichizo Nishino

Summary: Dystrophinopathy is a disease caused by alterations in the DMD gene. In this study, a combined laboratory and computational analysis approach was used to identify disease-causing genomic variants and regulatory mechanisms underlying abnormal DMD transcript generation in genetically undiagnosed patients. Abnormal DMD transcripts were detected in the majority of cases, with exonization of intronic sequences, exon skipping, aberrant splicing, polyadenylation, and transcription termination identified as the underlying mechanisms. The findings of this study have important implications for therapeutic options for patients with Dystrophinopathy.

HUMAN GENETICS (2023)

Article Genetics & Heredity

Gastrointestinal cancer occurs as extramuscular manifestation in FSHD1 patients

Takashi Kurashige, Hiroyuki Morino, Hiroki Ueno, Tomomi Murao, Tomoaki Watanabe, Takao Hinoi, Ichizo Nishino, Tsuyoshi Torii, Hirofumi Maruyama

Summary: This study investigated clinical manifestations in 31 FSHD1 patients and 30 non-affected individuals. The results showed that gastrointestinal cancers, specifically gastric and colorectal cancers, increased after the age of 40 in FSHD1 patients and were more frequent compared to non-affected individuals, but were not dependent on D4Z4 repeat number.

JOURNAL OF HUMAN GENETICS (2023)

Article Clinical Neurology

A young female case of asymptomatic immune-mediated necrotizing myopathy: a potential diagnostic option of antibody testing for rhabdomyolysis

Ryo Sasaki, Taijun Yunoki, Yumiko Nakano, Yusuke Fukui, Mami Takemoto, Ryuta Morihara, Eri Katsuyama, Ichizo Nishino, Toru Yamashita

Summary: This case report describes a young asymptomatic patient with anti-3-hydroxy-3-methylglutaryl-coenzyme A reductase immune-mediated necrotizing myopathy (anti-HMGCR IMNM). The patient, a 17-year-old woman, presented with elevated creatine kinase (CK) levels without any muscular symptoms. After further examinations and antibody testing, she was diagnosed with anti-HMGCR IMNM and showed positive response to methotrexate and continuous intravenous immunoglobulin treatment. This is an uncommon case of asymptomatic anti-HMGCR IMNM in a young patient, and early diagnosis allowed for timely treatment. The findings suggest that antibody testing could be a diagnostic option for rhabdomyolysis.

NEUROMUSCULAR DISORDERS (2023)

Article Clinical Neurology

Clinical characteristics of dysphagic inclusion body myositis

Kenichiro Taira, Madoka Mori-Yoshimura, Toshiyuki Yamamoto, Yasushi Oya, Ichizo Nishino, Yuji Takahashi

Summary: This study compared the swallowing function and muscle magnetic resonance imaging data between dysphagic patients with inclusion body myositis (IBM) with cricopharyngeal bar (CPB) (IBM-CPB(+), n=17) and IBM patients without CPB (IBM-CPB(-), n=28). The study found that IBM-CPB(+) patients were older at diagnosis, had more frequent obstruction-related dysphagia, stronger knee extension, and less intramuscular fatty infiltration in limb muscles compared to IBM-CPB(-) patients. These findings provide valuable information on the clinical heterogeneity of IBM and the subset of IBM-CPB(+) patients.

NEUROMUSCULAR DISORDERS (2023)

Article Clinical Neurology

Short-range axono-cortical evoked-potentials in brain tumor surgery: Waveform characteristics as markers of direct connectivity

Olivier Rossel, Felix Schlosser-Perrin, Hugues Duffau, Riki Matsumoto, Emmanuel Mandonnet, Francois Bonnetblanc

Summary: This study aimed to identify criteria for determining direct neurophysiological connections in intraoperative measurement of axono-cortical evoked potentials (ACEP). Through analysis of recorded results, specific characteristics of evoked responses were identified, allowing for differentiation between hotspot activity with direct connectivity to the stimulated site and neighboring activity.

CLINICAL NEUROPHYSIOLOGY (2023)

Article Clinical Neurology

Familial adult myoclonus epilepsy: Neurophysiological investigations

Raffaele Dubbioso, Antonio Suppa, Marina A. J. Tijssen, Akio Ikeda

Summary: FAME/BAFME is a high-penetrant autosomal dominant condition characterized by cortical myoclonus and occasional/rare convulsive seizures. Neurophysiological findings suggest that cortical hyperexcitability in FAME/BAFME may be caused by abnormal neuronal network activity involving both cortical and subcortical structures, particularly the cerebellum. Advanced transcranial magnetic stimulation (TMS) protocols could be used to evaluate the functional connectivity between the cerebellum and cortical structures, and non-invasive brain stimulation techniques may be potential therapeutic tools to improve cortical excitability in FAME/BAFME.

EPILEPSIA (2023)

Article Clinical Neurology

Familial adult myoclonus epilepsy: Clinical findings, disease course, and comorbidities

Beatriz G. Giraldez, Jose M. Serratosa, Salvatore Striano, Akio Ikeda, Pasquale Striano, Antonietta Coppola

Summary: Familial adult myoclonus epilepsy (FAME) is an autosomal dominant condition characterized by myoclonic tremor and epilepsy, mainly occurring in adulthood. The clinical course is generally non-progressive or slowly progressive, and epilepsy can be controlled with appropriate medication, allowing individuals to have a normal life expectancy. However, the severity of myoclonus increases with age and can lead to disability in elderly individuals. Since routine genetic tests cannot detect the non-coding repeat expansions responsible for FAME, a clinical diagnosis accompanied by neurophysiological testing is essential for guiding the selection of specific genetic techniques by geneticists.

EPILEPSIA (2023)

Article Clinical Neurology

Correlation of muscle ultrasound with clinical and pathological findings in idiopathic inflammatory myopathies

Takeshi Yoshida, Hiroki Yamazaki, Yukako Nishimori, Naoko Takamatsu, Koji Fukushima, Yusuke Osaki, Yoshinori Taniguchi, Taiki Nozaki, Yoshitaka Kumon, Jemima Albayda, Ichizo Nishino, Yuishin Izumi

Summary: This study aims to investigate the change in muscle echogenicity and its histopathological basis in patients with idiopathic inflammatory myopathies (IIMs). The results show that muscle echointensity is significantly higher in patients with IIMs compared to controls, and it correlates with creatine kinase and muscle strength. Muscle echointensity may serve as a surrogate marker of muscle inflammation in non-IBM IIMs.

MUSCLE & NERVE (2023)

Article Clinical Neurology

Overlap syndrome with antibodies against multiple transfer-RNA components presenting antisynthetase syndrome

Haruhiko Motegi, Yohei Kirino, Ryoji Morishita, Ichizo Nishino, Shigeaki Suzuki

Summary: Overlap syndrome refers to the presence of myositis in conjunction with one or more collagen diseases such as systemic lupus erythematosus, systemic sclerosis, and/or rheumatoid arthritis. It is unclear whether the myopathy of overlap syndrome is specific to a particular disease or falls into one of the four major subsets: inclusion body myositis, immune-mediated necrotizing myopathy, dermatomyositis, and antisynthetase syndrome. This case report highlights a patient with overlap syndrome who exhibited autoantibodies against multiple transfer-RNA components, suggesting the presence of antisynthetase syndrome. The findings suggest that the myopathological features of overlap syndrome may include antisynthetase syndrome.

NEUROMUSCULAR DISORDERS (2023)

Article Clinical Neurology

Myopathic changes caused by protein aggregates in adult-onset spinal muscular atrophy

Satoshi Yamashita, Akihito Nagatoshi, Yosuke Takeuchi, Ichizo Nishino, Mitsuharu Ueda

Summary: Spinal muscular atrophy (SMA), an autosomal-recessive lower motor neuron disease, leads to progressive muscle wasting and weakness. A patient with adult-onset SMA was found to have myopathic changes, characterized by accumulation of phosphorylated p62 and TDP-43 in muscle cells. This suggests that abnormal protein aggregation may play a role in the myopathic pathology of SMA.

NEUROPATHOLOGY (2023)

Article Clinical Neurology

A Case of Oculopharyngeal Muscular Dystrophy Caused by a Novel PABPN1 c.34G > T (p.Gly12Trp) Point Mutation without Polyalanine Expansion

Yoshiaki Takahashi, Nobutoshi Morimoto, Tomoaki Nada, Mizuki Morimoto, Nobuyuki Eura, Narihiro Minami, Ichizo Nishino

Summary: This article describes a novel gene mutation that causes oculopharyngeal muscular dystrophy (OPMD), not through the expansion or elongation of the alanine stretch. The clinical and pathological findings of a 77-year-old male patient are consistent with OPMD, suggesting that OPMD may be caused by point mutations in addition to triplet repeats.

JOURNAL OF NEUROMUSCULAR DISEASES (2023)

Article Cardiac & Cardiovascular Systems

Sick sinus syndrome concomitant with myopathy associated with anti-mitochondrial antibodies: a case report

Maya Ishiguro, Yuji Nagatomo, Kanki Inoue, Tsutomu Yoshikawa, Saeko Yoshizawa, Yasushi Oya, Ichizo Nishino, Mitsuaki Isobe

Summary: This article reports a case of AMA-associated myopathy in which bradycardia-related symptoms preceded skeletal muscle symptoms. Blood tests showed elevated CK and hepatic enzymes. The patient was diagnosed with AMA-associated myopathy and received steroid pulse therapy.

EUROPEAN HEART JOURNAL-CASE REPORTS (2023)

Meeting Abstract Rheumatology

TRANSVERSOSPINALIS INVOLVEMENT IS SPECIFIC TO INCLUSION BODY MYOSITIS

Satoko Ota, Akinori Uruha, Rui Shimazaki, Masako Mukai, Tomoya Kawazoe, Daisuke Nakashima, Yasuhiro Nakata, Ichizo Nishino, Kazushi Takahashi

CLINICAL AND EXPERIMENTAL RHEUMATOLOGY (2023)

Article Rheumatology

Hepatic veno-occlusive disease accompanied by thrombotic microangiopathy developed during treatment of juvenile dermatomyositis and macrophage activation syndrome: A case report

Mariko Mouri, Toru Kanamori, Eriko Tanaka, Kanako Hiratoko, Mariko Okubo, Michio Inoue, Tomohiro Morio, Masaki Shimizu, Ichizo Nishino, Naoko Okiyama, Masaaki Mori

Summary: This report describes a case of a child with juvenile dermatomyositis (JDM) who developed veno-occlusive disease (VOD) and thrombotic microangiopathy (TMA) during treatment. The patient experienced various complications related to the treatment of JDM and macrophage activation syndrome (MAS). However, with adjustments to the treatment and discontinuation of specific medications, the patient's VOD and TMA improved.

MODERN RHEUMATOLOGY CASE REPORTS (2023)

暂无数据