Journal of Clinical Neuromuscular Disease

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No abstract text is available yet for this article.

Welander distal myopathy is a rare myopathy with prominent and early involvement of distal upper extremity muscles, prevalent in individuals of Scandinavian origin, and caused by a founder mutation in the cytotoxic granule-associated RNA-binding protein (T-cell intracellular antigen-1; TIA1), E384K. Different pathogenic variants in the TIA1 gene, distinct from the founder 1, have recently been associated with frontotemporal dementia and amyotrophic lateral sclerosis (ALS), suggesting that TIA1-related disorders belong to the group of multisystem proteinopathies...

OBJECTIVES: Cranial nerve (CN) involvement is not a common feature of typical chronic inflammatory demyelinating polyneuropathy (CIDP). Patients with acute presentation of CN palsy in CIDP may be misdiagnosed and treated as other pathologies. METHODS: We report a patient with multiple cranial neuropathies at the onset of CIDP in detail. In addition, we reviewed a large cohort of patients with CN involvement in CIDP and summarized their characteristics and clinical findings...

This update begins with a section on inflammatory myopathies covering inclusion body myositis in younger patients, the possibility of a pathogenic role for anti-cN1A antibodies, and a negative trial of arimoclomol in inclusion body myositis. The potential study of Janus kinase inhibitors in dermatomyositis is discussed as well as the possible role of targeted therapy for immune checkpoint inhibitor neuromuscular complications. Next, studies of disease-modifying or potential disease-modifying therapies for inherited myopathies are addressed including the encouraging follow-up study of gene replacement therapy for Duchenne muscular dystrophy (DMD), a negative trial of tamoxifen in DMD, and the complex topic of gene therapy for X-linked myotubular myopathy...

X-linked myopathy with excessive autophagy is a rare disorder caused by a mutation in the vacuolar ATPase assembly factor gene which causes slowly progressive early onset proximal weakness and loss of ambulation by the age of 50-70 years. Electrodiagnostic (EDx) testing usually shows widespread complex repetitive and myotonic discharges, even in muscles unaffected clinically. We report a 65-year-old man who presented with progressive proximal weakness since his teenage years. Extensive workup over 30 years revealed inconclusive EDx and muscle histopathology findings...

OBJECTIVES: To document the utility of decremental responses in the repetitive nerve stimulation test (RNS) and spontaneous activities in needle electromyography (EMG) in the trapezius muscle for the diagnosis of amyotrophic lateral sclerosis. METHODS: Subjects were retrospectively identified from our EMG database. Cervical spondylosis was represented as a disease control group. We investigated the sensitivity and specificity of RNS and EMG in the trapezius muscle and those of diagnostic criteria including the Gold Coast criteria (GCC)...

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No abstract text is available yet for this article.

No abstract text is available yet for this article.

No abstract text is available yet for this article.

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OBJECTIVES: To demonstrate treatment efficacy on composite and non-length-dependent (NLD) punch biopsy specimens from intravenous immunoglobulin (IVIG) in pure small-fiber neuropathy (SFN) with trisulfated heparin disaccharide (TS-HDS), fibroblast growth factor-3 (FGFR-3), or Plexin D1 antibodies. SFN has an increasing prevalence, and over 30% of cases may be immune-mediated. TS-HDS, FGFR-3, and Plexin D1 autoantibodies have been shown to be present in 44%-55% of cryptogenic SFN cases, suggesting an immune mechanism...

INTRODUCTION: Several neurological complications have been reported with COVID-19, including Guillain-Barré syndrome (GBS). We looked at incidence, baseline characteristics, and in-hospital outcomes of COVID-19-associated GBS in the United States. STUDY DESIGN AND METHODS: We conducted a retrospective analysis using the US National Inpatient Sample database to identify hospitalizations for COVID-19 and GBS, using International Classification of Disease, 10th Revision, codes G610 and G650 for GBS and U071 for COVID-19...

OBJECTIVES: Small fiber neuropathy presents a significant diagnostic and therapeutic challenge. To solve this challenge, efforts have been made to identify autoantibodies associated with this condition. Previous literature has often considered tri-sulfated heparin disaccharide (TS-HDS) and fibroblast growth factor receptor 3 (FGFR3) as a singular seropositive group and/or focused primarily on symptomatic associations. METHODS: One hundred seventy-two small fiber neuropathy patients with a Washington University Sensory Neuropathy panel were selected for TS-HDS seropositivity, FGFR-3 seropositivity, and seronegative controls...

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OBJECTIVES: 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"...