Journal of Clinical Neuromuscular Disease This is an RSS file. You can use it to subscribe to this data in your favourite RSS reader or to display this data on your own website or blog.

SARS-CoV-2–Associated Guillain–Barre Syndrome With Good Response to Plasmapheresis
No abstract available (Source: Journal of Clinical Neuromuscular Disease)
Source: Journal of Clinical Neuromuscular Disease - August 27, 2020 Category: Neurology Tags: Letters to the Editor Source Type: research

Wild-type Transthyretin Amyloid Myopathy With an Inclusion Body Myositis Phenotype
We describe the case of a patient with SSA who exhibited asymmetric quadriceps and finger flexor weakness, a phenotype usually seen in inclusion body myositis. (Source: Journal of Clinical Neuromuscular Disease)
Source: Journal of Clinical Neuromuscular Disease - August 27, 2020 Category: Neurology Tags: Short Report Source Type: research

Positive Cytosolic 5-Nucleotidase 1A Antibodies in Motor Neuron Disease
Inclusion body myositis (IBM) is the most common acquired myopathy in adults older than 50 years. Muscle biopsy remains the gold standard for diagnosis. Recently described serum antibodies against cytosolic 5-nucleotidase 1A (cN1A) are considered highly specific for IBM. However, positive cN1A antibodies in diseases other than IBM are recently reported. We review 2 cases in which serum antibodies were positive but ancillary testing revealed motor neuron disease. A 68-year-old man presented with asymmetric quadriceps and handgrip weakness prompting concern for IBM. However, electromyography showed purely chronic neurogenic ...
Source: Journal of Clinical Neuromuscular Disease - August 27, 2020 Category: Neurology Tags: Short Report Source Type: research

VZV Presenting as Orbital Apex Disorder in an Immunocompetent Young Man: Neuromuscular Image
No abstract available (Source: Journal of Clinical Neuromuscular Disease)
Source: Journal of Clinical Neuromuscular Disease - August 27, 2020 Category: Neurology Tags: Image Source Type: research

What Is in the Literature
What is in the Literature focuses on peripheral neuropathies with new and practical information related to the diagnosis, treatment, and management. Diagnostic and treatment guidelines are available for chronic inflammatory demyelinating polyradiculoneuropathy (CIDP) but not all clinicians follow them resulting in erroneous diagnoses and prolonged treatment. Secondary axonal loss in CIDP causes increased connective tissue in muscle. Antibodies to proteins at the node of Ranvier are found in a small percentage of patients with CIDP. The differential diagnosis for CIDP-like neuropathies includes amyloid neuropathy and POEMS ...
Source: Journal of Clinical Neuromuscular Disease - August 27, 2020 Category: Neurology Tags: Review Article Source Type: research

Laing Myopathy: Report of 4 New Families With Novel MYH7 Mutations, Double Mutations, and Severe Phenotype
In this report, we add to the medical literature by describing the clinicopathological findings in 8 affected family members from 4 new LDM families—including 2 with novel MYH7 mutations (Y162D and A1438P), one with dual mutations (V39M and K1617del), and one family (E1508del) with severe early-onset weakness associated with contractures, respiratory insufficiency, and dilated cardiomyopathy. Our families highlight the ever-expanding clinical spectrum and genetic variation of the skeletal myopathies related to MYH7 gene mutations. (Source: Journal of Clinical Neuromuscular Disease)
Source: Journal of Clinical Neuromuscular Disease - August 27, 2020 Category: Neurology Tags: Original Article Source Type: research

Longitudinal Analysis of Disease Burden in Refractory and Nonrefractory Generalized Myasthenia Gravis in the United States
Conclusions: People who have ever had refractory gMG may have worse functional status, more exacerbations, and higher HRU than people with consistently nonrefractory disease. (Source: Journal of Clinical Neuromuscular Disease)
Source: Journal of Clinical Neuromuscular Disease - August 27, 2020 Category: Neurology Tags: Original Article Source Type: research

Nerve Pathology Distinguishes Focal Motor Chronic Inflammatory Demyelinating Polyradiculoneuropathy From Multifocal Motor Neuropathy
Conclusions: Based on clinical evaluation, electrophysiology, and nerve biopsy pathology, we can divide the conditions into inflammatory demyelinating neuropathy (focal CIDP) versus chronic axonal neuropathy (MMN). The divergent pathological findings provide further evidence that CIDP and MMN are fundamentally different disorders. (Source: Journal of Clinical Neuromuscular Disease)
Source: Journal of Clinical Neuromuscular Disease - August 27, 2020 Category: Neurology Tags: Original Article Source Type: research

Attitudes Toward Noninterventional Observational Studies in US and Australian Patients With Sporadic Inclusion Body Myositis
No abstract available (Source: Journal of Clinical Neuromuscular Disease)
Source: Journal of Clinical Neuromuscular Disease - May 28, 2020 Category: Neurology Tags: Letters to the Editor Source Type: research

Pseudometabolic Presentation of Dystrophinopathy in a Family Due to a Rare Nonsense Mutation
No abstract available (Source: Journal of Clinical Neuromuscular Disease)
Source: Journal of Clinical Neuromuscular Disease - May 28, 2020 Category: Neurology Tags: Letters to the Editor Source Type: research

Takotsubo Cardiomyopathy in Myasthenic Crisis
No abstract available (Source: Journal of Clinical Neuromuscular Disease)
Source: Journal of Clinical Neuromuscular Disease - May 28, 2020 Category: Neurology Tags: Letters to the Editor Source Type: research

Use of Botulinum Toxin Type A in a Patient With Refractory Itch From Notalgia Paresthetica
No abstract available (Source: Journal of Clinical Neuromuscular Disease)
Source: Journal of Clinical Neuromuscular Disease - May 28, 2020 Category: Neurology Tags: Letters to the Editor Source Type: research

Novel Coronavirus (COVID-19)-Associated Guillain–Barré Syndrome: Case Report
No abstract available (Source: Journal of Clinical Neuromuscular Disease)
Source: Journal of Clinical Neuromuscular Disease - May 28, 2020 Category: Neurology Tags: Short Report Source Type: research

BAG3 Myopathy Presenting With Prominent Neuropathic Phenotype and No Cardiac or Respiratory Involvement: A Case Report and Literature Review
We describe BAG3 myopathy due to p.Pro209Leu in a 13-year-old girl with initial prominent neuropathic phenotype and no cardiac or respiratory involvement. Parents reported toe walking and clumsiness since 3 years old. Examination at the age of 13 years showed findings suggestive of Charcot–Marie–Tooth disease. Nerve conduction studies revealed demyelinating polyneuropathy. Next-generation sequencing panel for inherited neuropathies was unrevealing. Whole exome sequencing identified a de novo mutation in BAG3. Muscle biopsy confirmed myofibrillar myopathy. No cardiac involvement or symptoms of respiratory involvement at...
Source: Journal of Clinical Neuromuscular Disease - May 28, 2020 Category: Neurology Tags: Case Review Source Type: research

Relapsing Bickerstaff Brainstem Encephalitis After Autologous Stem Cell Transplant
We present a case of this rare syndrome after autologous stem cell transplant. (Source: Journal of Clinical Neuromuscular Disease)
Source: Journal of Clinical Neuromuscular Disease - May 28, 2020 Category: Neurology Tags: Case Review Source Type: research