Hydroxychloroquine (HCQ) and chloroquine are used worldwide for malaria as well as connective and rheumatological disorders. They have been reported to be linked to myopathy in patients. We report four patients who were receiving HCQ as part of treatment for connective tissue disorder and who presented with myopathy. The muscle biopsy in these patients was consistent with findings of HCQ toxicity. HCQ muscle toxicity is usually self‐limiting after discontinuation of the drug. It also usually tends to be under‐reported due to presence of various confounding factors. This warrants close monitoring and consideration of muscle biopsy as part of initial work up of patients who present with myopathy while receiving HCQ.
Charcot-Marie-Tooth neuropathy type 1 (CMT1) is an inherited demyelinating neuropathy characterized by distal muscle weakness and atrophy. Charcot-Marie-Tooth disease type 1C (CMT1C) is a rare form of CMT1 caused by mutations in the lipopolysaccharide-induced tumor necrosis factor (LITAF) or small integral membrane protein of the lysosome/late endosome (SIMPLE) gene. Phenotypically, CMT1C is characterized by sensory loss and slow conduction velocity, and is typically slowly progressive and often associated with pes cavus foot deformity and bilateral foot drop. A 42-year-old female presented with a 10-year history of slowly progressive bilateral calf pain and cramps. After multiple electromyography/nerve conduction studies (EMG/NCS) and genetic testing, the patient was revealed to have CMT1C with a heterozygous pathogenic variant, c.334G>A (p.Gly112Ser). However, the presentation of the patient's CMT1C phenotype was unusual compared to patients with similar diagnosis in a previous study, including a normal sensory exam with the exception of high arches and mildly reduced vibratory sense. Additionally, the patient's teenage son already started showing symptoms of CMT1C despite the fact that the onset of the disease typically occurs at an older age. This particular case further highlights the idea that the phenotype related to CMT1C may have a wide spectrum of disease severity.
Tuberculous granulomatous vasculitis is commonly associated with meningitis and retinitis. We describe a 39-year-old male, with a history of pulmonary tuberculosis (TB) who presented with progressive weakness, pain, tingling and numbness in the bilateral lower extremities. Significant atrophy and weakness of the lower extremities were evident along with absent reflexes. Nerve conduction studies and electromyography showed severe axonal polyneuropathy and denervation on the lower extremities. Nerve biopsy demonstrated small vessel leukocytoclastic vasculitis without any granuloma formation. Muscle biopsy was consistent with denervation and atrophy with target fiber changes. Tuberculosis-related vasculitis causing peripheral neuropathy is extremely rare and our case is unique in manifesting this presentation.
Background: Aging is a complex irreversible process that is not only related to an individual’s genetic make-up but also to lifestyle choices and environmental exposures. Like every other structure in human body, the Neuromuscular Junction (NMJ) is not averse to aging. Objectives: The prime objective is to analyse the microscopic and macroscopic changes at the NMJs with aging. Methods: For the purpose of review we evaluated data from resources like Pubmed, Ovid, UCLA libraries and USC libraries. Results: We review various morphological, physiological, immunological, and biochemical changes in NMJs with aging and their management. Conclusion: The alterations in NMJs secondary to aging are inevitable. It is vital that neurologists clearly understand the pathophysiology of NMJ aging and differentiate between physiological and pathological effects of aging. With the current knowledge of science, the changes in NMJ aging can be better prevented rather than cured.
Background:The neural substrates of Yogic meditation are not well understood. Meditation is theorized to be a conscious mental process that induces a set of complex physiological changes within the areas of the brain termed as the “relaxation response.”Aims and objective:Pilot data of a functional magnetic resonance imaging (fMRI) study is presented to observe and understand the selective activations of designated brain regions during meditation.Material and methods:Four trained healthy Patanjali Yoga practitioners in their mid-60s participated in this prototype interventional study. A three-part 1-min block design alternating between meditation (test) and relaxation (control) phase with an imaginary visual fixation and auditory stimulation was used.Result and observation:The fMRI images revealed strong activation in the right prefrontal regions during the visual and auditory fixation meditation phases compared to no activations during the relaxation phase. A comparison between the visual and auditory fixations revealed shifts within the prefrontal and temporal regions. In addition, activation in occipital and temporal regions was observed during the meditation phase. Occipital lobe activation was more apparent during visual meditation phase.Conclusion:It is concluded that specific fMRI brain activations are observed during different forms of Yogic meditation (visual and auditory phases). Occipital and prefrontal activation could be modulating the known neurophysiological and biological effects of meditation.
The objective of this analysis is to study the life of Hans Gustav Wilhelm Steinert and his role in identifying several neurologic disorders including myotonic dystrophy (DM). DM type 1 (DM1) is a commonly inherited adult muscle disorder. In 1909, its characteristics were first described by Hans Steinert (1875–1911), a German neurologist. Born in Dresden, Germany, Steinert studied philosophy and medicine at the Universities of Leipzig, Berlin, Freiberg, and Kiel. There, under the supervision of Heinrich Curschmann, he accomplished his own works on aphthongia, cerebral muscular atrophy, and cerebral hemiplegia. In 1909, he published his study on six patients exhibiting characteristic myotonia. With autopsy findings of muscular fibrosis, Steinert identified this independent symptom complex as “Dystrophien Myotoniker” (DM). Overall, Steinert's accurate clinical characterization, coupled with the first ever autopsy finding of this condition, laid the foundations of our current understanding about DM1. This review serves as a tribute to the achievements of Hans Steinert and provides an opportunity to understand the historical perspective of DM1. Information for this analysis was gathered from PubMed and libraries at University of Southern California and University of California, Los Angeles. In addition, personal communications with Professor Benedikt Schoser at The University of Munich, Professor Tiemo Grimm at The University of Wuerzburg, and Professor Peter Harper at The University of Wales are acknowledged.
Exome or genome sequencing was performed to identify the genetic etiology for the clinical presentation of global developmental delay, intellectual disability, and sensorimotor neuropathy with associated distal weakness in two unrelated families. A homozygous frameshift variant c.186delA (p.A63Qfs*3) in the NUDT2 gene was identified in cases 1 and 2 from one family and a third case from another family. Variants in NUDT2 were previously shown to cause intellectual disability, but here we expand the phenotype by demonstrating its association with distal upper and lower extremity weakness due to a sensorimotor polyneuropathy with demyelinating and/or axonal features.
Sjögren's syndrome (SS) is a chronic autoimmune disorder, characterized by lymphocytic infiltration of exocrine glands and causing the decreased function of lacrimal and salivary glands. We describe a case of a 34-year-old male who presented with Sjögren's syndrome presenting as myopathy and sensorimotor neuropathy. His creatinine kinase levels were elevated with positive anti-Sjögren's syndrome-related antigen A autoantibodies and anti-Sjögren's syndrome Type B autoantibodies. Electromyography showed evidence of irritable myopathy. Parotid gland biopsy demonstrated focal lymphocytic sialadenitis. The patient favorably responded to high-dose steroids. Thus, although rare, inflammatory myopathy must be considered part of the initial presentation of Sjögren's syndrome.
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