Journal of Clinical Neuromuscular Disease最新文献

{"title":"Late Onset of Severe Demyelinating Peripheral Neuropathy in a 62-Year-Old African American Woman.","authors":"Sasha A Zivkovic, Daniel DiCapua","doi":"10.1097/CND.0000000000000481","DOIUrl":"10.1097/CND.0000000000000481","url":null,"abstract":"<p><strong>Abstract: </strong>Hereditary neuropathies are typically associated with an early onset of symptoms, but same types of neuropathies may also manifest late, after the age 50 years. A 62-year-old African American woman presented with a 6-year history of gait unsteadiness and has been using a walker since the age 57 years after an unwitnessed fall. Gradual worsening of walking difficulties was later followed by decreased dexterity. The family history was negative for neuromuscular disorders, including neuropathy. On examination, the patient had both distal and proximal weakness with distal sensory loss to all modalities and hyporeflexia. Charcot Marie Tooth Examination Score was 12. Previous electrodiagnostic testing at the age 60 years showed severe sensorimotor demyelinating polyneuropathy with bilateral severe carpal tunnel syndrome. Genetic testing showed a homozygous pathogenic mutation in SH3TC2 gene (c.2860C>T; p.Arg954*), associated with CMT4C. CMT4C is the most common recessive demyelinating sensorimotor polyneuropathy and overall comprises 0.4%-1.7% of all patients with Charcot-Marie-Tooth disease. It is more common in French Canadians and Spanish Roma and in recent natural history study; only 1 of 56 patients was African American. This report demonstrates sporadic occurrence of CMT4C in other ethnic groups as well.</p>","PeriodicalId":39645,"journal":{"name":"Journal of Clinical Neuromuscular Disease","volume":"25 3","pages":"152-156"},"PeriodicalIF":0.0,"publicationDate":"2024-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140029170","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Concurrent Carpal Tunnel Syndrome and Recurrent Motor Branch of the Median Nerve Compression: A Diagnostic Complexity.","authors":"Özgür Zeliha Karaahmet, Egemen Ayhan, Yasemin Tombak Yıldızkan, Ebru Umay","doi":"10.1097/CND.0000000000000474","DOIUrl":"10.1097/CND.0000000000000474","url":null,"abstract":"","PeriodicalId":39645,"journal":{"name":"Journal of Clinical Neuromuscular Disease","volume":"25 3","pages":"148-150"},"PeriodicalIF":0.0,"publicationDate":"2024-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140029168","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Nodal Conduction Block and Internodal Conduction Block in Nodopathy.","authors":"Shin J Oh","doi":"10.1097/CND.0000000000000477","DOIUrl":"10.1097/CND.0000000000000477","url":null,"abstract":"<p><strong>Objectives: </strong>In 2015, a new term \"nodopathy\" was introduced to represent a group of neuropathy because of autoantibodies at the node of Ranvier and paranodal area. This review was conducted to highlight the electrophysiologic characteristics of acute and chronic nodopathies by the newly introduced term: \"nodal conduction block (CB); CB without temporal dispersion or slow nerve conduction velocity\" and by introducing a new term: \"internodal CB; CB with temporal dispersion or/and slow nerve conduction velocity\".</p><p><strong>Methods: </strong>Through PubMed searches, 23 cases of acute (<4 weeks of neuropathy) nodopathy and 12 cases of chronic (>4 weeks of neuropathy) nodopathy are identified. Two other required inclusion criteria are positive nodal antibody test and detailed nerve conduction data with or without figure. All existing data were analyzed to see whether these cases had nodal or internodal CB.</p><p><strong>Results: </strong>Among 23 cases of acute nodopathy, 11 had nodal CB, 9 internodal CB, and 3 mixed CB. Thus, nodal CB was observed in 61% of acute nodopathy cases and internodal CB in 52% of acute nodopathy cases. Among 12 cases of chronic nodopathy, all 12 had internodal CB.</p><p><strong>Conclusions: </strong>Nodal CB is the nerve conduction characteristic of acute nodopathy, but internodal CB does not rule out acute nodopathy. Internodal CB is the nerve conduction characteristic of chronic nodopathy.</p>","PeriodicalId":39645,"journal":{"name":"Journal of Clinical Neuromuscular Disease","volume":"25 3","pages":"163-170"},"PeriodicalIF":0.0,"publicationDate":"2024-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140029171","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Relationship Between Hand Function and Handheld Ultrasound Imaging in Inclusion Body Myositis.","authors":"Carolyn Black, Haibi Cai, Aliya Shabbir, Leo H Wang","doi":"10.1097/CND.0000000000000463","DOIUrl":"10.1097/CND.0000000000000463","url":null,"abstract":"<p><strong>Objective: </strong>Ultrasound studies in inclusion body myositis (IBM) have reported a characteristic pattern of increased echointensity in the flexor digitorum profundus (FDP) with relative sparing of the flexor carpi ulnaris (FCU). We examined the relationship between echointensity of the FDP and FCU muscles and hand strength or patient-reported outcomes (PROs).</p><p><strong>Methods: </strong>A total of 15 patients with IBM were recruited. Ultrasound images of the FDP and FCU muscles were obtained by a point-of-care ultrasound and graded using the modified Heckmatt score. Hand grip and neutral pinch strength were measured by dynamometry. PROs were assessed by the IBM Upper Extremity Function Scale.</p><p><strong>Results: </strong>FDP and/or FCU modified Heckmatt score showed a significant relationship with grip, neutral pinch strength, and PROs.</p><p><strong>Conclusions: </strong>Point-of-care ultrasound examination of the forearm may serve as an extension of the neuromuscular examination. The semi-qualitative echointensity rating based on modified Heckmatt score seems to correlate well with the objective strength measurement and PROs.</p>","PeriodicalId":39645,"journal":{"name":"Journal of Clinical Neuromuscular Disease","volume":"25 3","pages":"115-121"},"PeriodicalIF":0.0,"publicationDate":"2024-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140029172","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"An Unusual Presentation of MuSK-Myasthenia Gravis With Bladder Incontinence Responding to Rituximab Treatment: A Case Report and Review of the Literature.","authors":"Abena Kwegyir-Aggrey, James B Meiling, Nicholas J Miller, Rachana K Gandhi Mehta","doi":"10.1097/CND.0000000000000470","DOIUrl":"10.1097/CND.0000000000000470","url":null,"abstract":"","PeriodicalId":39645,"journal":{"name":"Journal of Clinical Neuromuscular Disease","volume":"25 3","pages":"145-146"},"PeriodicalIF":0.0,"publicationDate":"2024-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140040537","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Axonal Neuropathy in Severe SARS-CoV-2 Infections Is Multicausal.","authors":"Fulvio A Scorza, Josef Finsterer","doi":"10.1097/CND.0000000000000466","DOIUrl":"10.1097/CND.0000000000000466","url":null,"abstract":"","PeriodicalId":39645,"journal":{"name":"Journal of Clinical Neuromuscular Disease","volume":"25 3","pages":"142-144"},"PeriodicalIF":0.0,"publicationDate":"2024-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140029166","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"\"De Novo\" Hypercapnic Respiratory Failure Unmasking Neuromuscular Disorders: Experiences From a Tertiary Care Center and Review of Literature.","authors":"Aditya Vijayakrishnan Nair, Madhavi Kandagaddala, Ajith Sivadasan, A T Prabhakar, Shalini Nair, Vivek Mathew, Sanjith Aaron, Mathew Alexander","doi":"10.1097/CND.0000000000000465","DOIUrl":"10.1097/CND.0000000000000465","url":null,"abstract":"<p><strong>Objectives: </strong>Neuromuscular disorders could have respiratory involvement early or late into illness. Rarely, patients may present with a hypercapnic respiratory failure (with minimal motor signs) unmasking an underlying disease. There are hardly any studies which have addressed the spectrum and challenges involved in management of this subset, especially in the real-world scenario.</p><p><strong>Methods: </strong>A retrospective study comprising consecutive patients hospitalized with hypercapnic respiratory failure as the sole/dominant manifestation. The clinical-electrophysiological spectrum, phrenic conductions, diaphragm thickness, and outcomes were analyzed.</p><p><strong>Results: </strong>Twenty-seven patients were included, the mean age was 47.29 (SD 15.22) years, and the median duration of respiratory symptoms was 2 months (interquartile range [IQR] 1-4). Orthopnea was present in 23 patients (85.2%) and encephalopathy in 8 patients (29.6%). Phrenic nerve latencies and amplitudes were abnormal in 83.3% and 95.6%, respectively. Abnormal diaphragm thickness was noted in 78.5%. Based on a comprehensive electrophysiological strategy and paraclinical tests, an etiology was established in all. Reversible etiologies were identified in 17 patients (62.9%). These included myasthenia gravis (anti-AChR and MuSK), inflammatory myopathy, riboflavin transporter deficiency neuronopathy, Pompe disease, bilateral phrenic neuritis, and thyrotoxicosis. Respiratory onset motor neuron disease was diagnosed in 8 patients (29.6%). Despite diaphragmatic involvement, a functional respiratory recovery was noted at discharge (45%) and last follow-up (60%). Predictors for good outcomes included female sex, normal nerve conductions, and recent-onset respiratory symptoms.</p><p><strong>Discussion: </strong>A good functional recovery was noted in most of the patients including respiratory onset motor neuron disease. A systematic algorithmic approach helps in proper triaging, early diagnosis, and treatment. Clinical and electrodiagnostic challenges and observations from a tertiary care referral center are discussed.</p>","PeriodicalId":39645,"journal":{"name":"Journal of Clinical Neuromuscular Disease","volume":"25 3","pages":"122-131"},"PeriodicalIF":0.0,"publicationDate":"2024-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140029164","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Anti-Plexin-D1 Seropositive Small Fiber Neuropathy: Clinical Phenotype, Demographics, and Literature Review.","authors":"Peyton J Murin, Ivana Massabki, Jafar Kafaie","doi":"10.1097/CND.0000000000000472","DOIUrl":"10.1097/CND.0000000000000472","url":null,"abstract":"<p><strong>Objectives: </strong>Small fiber neuropathy (SFN) is a subtype of painful neuropathies defined by dysfunction of the Aδ and unmyelinated C fibers. It presents with both neuropathic pain and dysautonomia symptoms, posing a significant diagnostic and therapeutic challenge. To address this challenge, research has been conducted to identify autoantibodies and define their association with phenotypes.</p><p><strong>Methods: </strong>Eleven cases of anti-plexin-D1 seropositive SFN were reviewed, along with relevant literature, in attempt to better define anti-plexin-D1 SFN demographics, symptoms, associated medical conditions, and therapeutics.</p><p><strong>Results: </strong>Anti-plexin-D1 SFN typically presents in female patients, with neuropathic pain, normal skin biopsy findings, and normal nerve conduction studies. Anti-plexin-D1 shows an association with concurrent chronic pain, with almost half of the patients undergoing an interventional procedure.</p><p><strong>Conclusions: </strong>Anti-plexin-D1 represents a unique subgroup of SFN, defined by distinct demographics, phenotype, biopsy findings, and therapeutic management.</p>","PeriodicalId":39645,"journal":{"name":"Journal of Clinical Neuromuscular Disease","volume":"25 3","pages":"132-140"},"PeriodicalIF":0.0,"publicationDate":"2024-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140029165","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"46th ANNUAL CARRELL-KRUSEN NEUROMUSCULAR SYMPOSIUM, Dallas, TexasThursday-Friday, February 22-23, 2024: Meeting Convener: Susan T. Iannaccone, MD, FAAN.","authors":"","doi":"10.1097/CND.0000000000000482","DOIUrl":"https://doi.org/10.1097/CND.0000000000000482","url":null,"abstract":"","PeriodicalId":39645,"journal":{"name":"Journal of Clinical Neuromuscular Disease","volume":"25 1S","pages":"S1-S19"},"PeriodicalIF":0.0,"publicationDate":"2024-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139933407","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Systematic Review of the Clinical Characteristics and Management of Isaac Syndrome.","authors":"Mustafa Al-Chalabi, Prajwal Hegde, Sara R Moore, Yasmeen Abouainain, Myles Keener, Hira Parvez, Jeremy Eid, Sidra Saleem, Ajaz Sheikh","doi":"10.1097/CND.0000000000000460","DOIUrl":"10.1097/CND.0000000000000460","url":null,"abstract":"&lt;p&gt;&lt;strong&gt;Objectives: &lt;/strong&gt;Isaac syndrome (IS) is a condition characterized by peripheral nerve hyperexcitability caused by voltage-gated potassium channel (VGKC)-complex antibodies. Muscle twitching, stiffness, hypertrophy, and dysautonomic characteristics, such as hyperhidrosis, are common manifestations. The syndrome can be autoimmune or paraneoplastic, with thymoma being a common cause of paraneoplastic IS. Furthermore, this condition could be handed down from one generation to another. However, there is limited information regarding outcomes, relapses, associated syndromes, associated malignancies (other than thymoma), and treatment options. Despite its rarity, there remains a need for effective management strategies for patients with IS. To address this gap, we conducted a systematic review to summarize the most common and effective treatments of IS in immunomodulatory agents and symptomatic medications, as well as to describe outcomes, relapses, and associated malignancies. Altogether, this review serves to guide clinical practice recommendations for IS and highlight areas for further research.&lt;/p&gt;&lt;p&gt;&lt;strong&gt;Methods: &lt;/strong&gt;We used the Preferred Reporting Items for Systematic Reviews and Meta-Analyses protocol to conduct a systematic review of cases reposted through the PubMed and Google Scholar databases. The terms \"Isaac Syndrome\" and \"Acquired Neuromyotonia\" were used. The Joanna Briggs Institute's critical appraisal tool was used to evaluate the quality of the included studies.&lt;/p&gt;&lt;p&gt;&lt;strong&gt;Results: &lt;/strong&gt;We identified 61 case reports and 4 case series, comprising a total of 70 patients with IS (mean age at onset: 42.5 ± 18 years, and 69% were males). Fourteen cases reported relapses. Thymoma was the most common malignancy associated with IS, followed by lymphoma. Among various serum antibodies, voltage-gated potassium channel-complex antibodies were the most reported antibodies elevated in IS (reported in 38 patients and elevated in 21 patients [55.2%]), followed by acetylcholine ganglionic receptor antibodies, which were reported in 30% of patients (n = 21) and were elevated in 5 cases. The most common electromyography findings were myokymic discharges (n = 22), followed by fasciculations (n = 21) and neuromyotonia (n = 19). For treatment, combining anticonvulsants such as carbamazepine with immunotherapy therapy showed the best results in controlling the symptoms. Among immunotherapy therapies, the combination of plasma exchange plus intravenous high-dose steroids achieved the best results in the acute treatment of IS ([n = 6], with improvement noted in 83.3% [n = 5] of cases). Among the symptomatic treatments with anticonvulsants, carbamazepine was the most efficacious anticonvulsant in treatment of IS, with an average effective dosing of 480 mg/day (carbamazepine was used in 32.3% of acute treatment strategies [n = 23], with improvement noted in 73.9% [n = 17] of cases).&lt;/p&gt;&lt;p&gt;&lt;strong&gt;Conclusions: &lt;/strong&gt;IS a rare neu","PeriodicalId":39645,"journal":{"name":"Journal of Clinical Neuromuscular Disease","volume":"25 2","pages":"94-106"},"PeriodicalIF":0.0,"publicationDate":"2023-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"92156920","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}