Progressive sensory neuropathy in patients without carcinoma: A disorder with distinctive clinical and electrophysiological findings

1981 ◽  
Vol 9 (3) ◽  
pp. 237-242 ◽  
Author(s):  
Michael D. Kaufman ◽  
Linton C. Hopkins ◽  
Barrie J. Hurwitz
Keyword(s):  
Sensory Neuropathy ◽  
Electrophysiological Findings

scholarly journals Diagnosis of Charcot-Marie-Tooth Disease

2009 ◽  
Vol 2009 ◽  
pp. 1-10 ◽  
Author(s):  
Isabel Banchs ◽  
Carlos Casasnovas ◽  
Antonia Albertí ◽  
Laura De Jorge ◽  
Mónica Povedano ◽  
...  
Keyword(s):  
Muscular Atrophy ◽  
Sensory Neuropathy ◽  
Mutant Gene ◽  
Foot Drop ◽  
Abnormal Development ◽  
Genetic Transmission ◽  
Charcot Marie Tooth ◽  
Charcot Marie Tooth Disease ◽  
New Genes ◽  
Electrophysiological Findings

Charcot-Marie-Tooth (CMT) disease or hereditary motor and sensory neuropathy (HMSN) is a genetically heterogeneous group of conditions that affect the peripheral nervous system. The disease is characterized by degeneration or abnormal development of peripheral nerves and exhibits a range of patterns of genetic transmission. In the majority of cases, CMT first appears in infancy, and its manifestations include clumsiness of gait, predominantly distal muscular atrophy of the limbs, and deformity of the feet in the form of foot drop. It can be classified according to the pattern of transmission (autosomal dominant, autosomal recessive, or X linked), according to electrophysiological findings (demyelinating or axonal), or according to the causative mutant gene. The classification of CMT is complex and undergoes constant revision as new genes and mutations are discovered. In this paper, we review the most efficient diagnostic algorithms for the molecular diagnosis of CMT, which are based on clinical and electrophysiological data.

scholarly journals Hereditary Neuropathy with Analysis of Electrophysiological Findings: A Case Report

2017 ◽  
Vol 2 (1) ◽  
pp. 43-45
Author(s):  
Md Ferdous Mian ◽  
Md Enayet Hussain ◽  
Md Nahidul Islam ◽  
AFM Al Masum Khan ◽  
Rajib Nayan Chowdhury
Keyword(s):  
Gold Standard ◽  
Muscular Atrophy ◽  
Sensory Neuropathy ◽  
Clinical History ◽  
Hereditary Neuropathy ◽  
Inheritance Pattern ◽  
Charcot Marie Tooth ◽  
Myelin Sheaths ◽  
Electrophysiological Findings ◽  
Nerve Dysfunction

The hereditary motor and sensory neuropathies (HMSN) represent a genetically heterogeneous collection of disorders in which patients develop a progressive muscular atrophy and sensory neuropathy of the distal extremities. There are abnormalities of axons or Schwann cells and their myelin sheaths resulting in peripheral nerve dysfunction. These disorders are also known as Charcot-Marie-Tooth (CMT) disease, which is divided into seven distinct subtypes based on inheritance pattern (dominant, recessive, or X-linked) and whether the primary pathology is located in the myelin or axon. Each of these CMT types are further divided based on their specific molecular and genetic findings. Here we report a case which was diagnosed on the basis of clinical history and neurophysiological testing. Although genetic analysis is the gold standard for diagnosis we could not do it due to lack of availability of genetic testing in our country at this moment.Journal of National Institute of Neurosciences Bangladesh, 2016;2(1): 43-45

Hereditary motor and sensory neuropathy type V or complicated form of spastic paraplegia?

2006 ◽  
Vol 37 (01) ◽  
Author(s):  
L Schöls ◽  
R Schüle ◽  
B Mauko ◽  
M Auer-Grumbach ◽  
L Schöls
Keyword(s):  
Sensory Neuropathy ◽  
Spastic Paraplegia ◽  
Hereditary Motor ◽  
Complicated Form ◽  
Type V ◽  
Motor And Sensory Neuropathy

Neuro-AIDS: Current status and Challenges to Antiretroviral Drug Therapy (ART) for Its Treatment.

2020 ◽  
Vol 15 ◽  
Author(s):  
Smita P. Kakad ◽  
Sanjay J. Kshirsagar
Keyword(s):  
Nervous System ◽  
Antiretroviral Therapy ◽  
Highly Active Antiretroviral Therapy ◽  
Sensory Neuropathy ◽  
Current Status ◽  
Viral Reservoir ◽  
Viral Reservoirs ◽  
Highly Active ◽  
Aids Therapy ◽  
The Brain

Introduction: The infiltration of HIV into the brain alters the functions of the nervous system known as NeuroAIDS. It leads to neuronal defects clinically manifested by motor and cognitive dysfunctions. Materials/Methods: Current antiretroviral therapy can prevent viral replication but cannot cure the disease completely. HAART-Highly active antiretroviral therapy used for the treatment of HIV infection. Challenges in neuro-AIDS therapy are as shown in the graphical abstract. One of the challenges is latent viral reservoirs like the brain; which acts as a sanctuary site for viruses. Nearly ~50% of HIV patients show neuropathological signs. Nervous system related disorders including AIDS dementia, sensory neuropathy, and myelopathy have a 25% of prevalence in patients having access to a highly active combination antiretroviral therapy. Results/Conclusions: Brain is one of the viral sanctuary sites for HIV. The current need of neuro-AIDS therapy is to target the brain as a viral reservoir. Drugs should cross or bypass the blood-brain barrier to reach the brain with effective concentrations. Current research on novel drug delivery approaches may prove helpful to treat neuro-AIDS and related disorders effectively.

Muscle thickness measured by ultrasound is reduced in neuromuscular disorders and correlates with clinical and electrophysiological findings

2019 ◽  
Vol 60 (6) ◽  
pp. 687-692 ◽  
Author(s):  
Alon Abraham ◽  
Vivian E. Drory ◽  
Yaara Fainmesser ◽  
Avi A. Algom ◽  
Leif E. Lovblom ◽  
...  
Keyword(s):  
Neuromuscular Disorders ◽  
Muscle Thickness ◽  
Electrophysiological Findings

scholarly journals Clozapine-induced stuttering in the absence of known risk factors: a case report

2021 ◽  
Vol 15 (1) ◽  
Author(s):  
Florence Jaguga
Keyword(s):  
Risk Factors ◽  
Family History ◽  
Side Effect ◽  
Case Reports ◽  
Extrapyramidal Symptoms ◽  
Prior History ◽  
Case Presentation ◽  
Rare Side Effect ◽  
History Of ◽  
Electrophysiological Findings

Abstract Background Stuttering is a rare side effect of clozapine. It has been shown to occur in the presence of one or more factors such as abnormal electrophysiological findings and seizures, extrapyramidal symptoms, brain pathology, and a family history of stuttering. Few case reports have documented the occurrence of clozapine-induced stuttering in the absence of these risk factors. Case presentation A 29-year-old African male on clozapine for treatment-resistant schizophrenia presented with stuttering at a dosage of 400 mg/day that resolved with dose reduction. Electroencephalogram findings were normal, and there was no clinical evidence of seizures. The patient had no prior history or family history of stuttering, had a normal neurological examination, and showed no signs of extrapyramidal symptoms. Conclusion Clinicians ought to be aware of stuttering as a side effect of clozapine, even in the absence of known risk factors. Further research should investigate the pathophysiology of clozapine-induced stuttering.

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