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Condition: Muscular Dystrophy
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Total 5 results found since Jan 2013.

What Causes Muscle Weakness?
Discussion Muscle tone is the slight tension that is felt in a muscle when it is voluntarily relaxed. It can be assessed by asking the patient to relax and then taking the muscles through a range of motion such as moving the wrists, forearm and upper arm. Muscle strength is the muscle’s force against active resistance. Impaired strength is called weakness or paresis. There are 5 levels of muscle strength. 0 = No muscle contraction detected 1 = Barely detected flicker of contraction 2 = Active movement with gravity eliminated 3 = Active movement against gravity 4 = Active movement against gravity and some resistance ...
Source: PediatricEducation.org - December 9, 2013 Category: Pediatrics Authors: pediatriceducationmin Tags: Uncategorized Source Type: news

G.P.157: Clinical and pathological features associated with mutations in MICU1
We present the clinical/pathological features in a cohort of 18 patients. Patients presented between birth and 8years with a mild, relatively static, proximal myopathy associated with high Creatinine Kinase (2000–10,000iu/L), learning difficulties and frequent microcephaly. At follow up (5–28yrs), all remained ambulant but variable extrapyramidal symptoms had developed in the majority by the end of the 1st decade. Other features suggestive of mitochondrial dysfunction included peripheral neuropathy, icthyosis, stroke like episodes, episodic weakness, ataxia and cataracts. Cardiomyopathy was not seen. Serum and CSF lact...
Source: Neuromuscular Disorders - September 4, 2014 Category: Neurology Authors: A.M. Childs, K. Pysden, H. Roper, G. Chow, E.H. Niks, M. Kriek, P.F. Chinnery, D. Lewis-Smith, M. Duchen, G. Szabadkai, C. Logan, E. Sheridan, C. Sewry, F. Muntoni Source Type: research

Histone Deacetylase (HDAC) Inhibitors - emerging roles in neuronal memory, learning, synaptic plasticity and neural regeneration.
Abstract Epigenetic regulation of neuronal signalling through histone acetylation dictates transcription programs that govern neuronal memory, plasticity and learning paradigms. Histone Acetyl Transferases (HATs) and Histone Deacetylases (HDACs) are antagonistic enzymes that regulate gene expression through acetylation and deacetylation of histone proteins around which DNA is wrapped inside a eukaryotic cell nucleus. The epigenetic control of HDACs and the cellular imbalance between HATs and HDACs dictate disease states and have been implicated in muscular dystrophy, loss of memory, neurodegeneration and autistic ...
Source: Current Neuropharmacology - October 21, 2015 Category: Drugs & Pharmacology Authors: Ganai SA, Ramadoss M, Mahadevan V Tags: Curr Neuropharmacol Source Type: research

The Director of the NIH Lays Out His Vision of the Future of Medical Science
Our world has never witnessed a time of greater promise for improving human health. Many of today’s health advances have stemmed from a long arc of discovery that begins with strong, steady support for basic science. In large part because of fundamental research funded by the National Institutes of Health (NIH), which traces its roots to 1887, Americans are living longer, healthier lives. Life expectancy for a baby born in the U.S. has risen from 47 years in 1900 to more than 78 years today. Among the advances that have helped to make this possible are a 70% decline in the U.S. death rate from cardiovascular disease ...
Source: TIME: Science - October 24, 2019 Category: Science Authors: Dr. Francis S. Collins Tags: Uncategorized Healthcare medicine Source Type: news

Q & A: Dr. Thomas Rando on preventing age-related diseases and turning discoveries into cures
For Dr. Thomas Rando, the path to becoming a physician-scientist began with something that hedidn ’t learn in high school biology.After one class that touched on the connections between neurons and muscle fibers, Rando took it upon to himself to find all the information he could about how cells communicate through electrical signals.Soon, he began pursuing that interest at Harvard University, where he completed his undergraduate work, a doctorate in cell and developmental biology and his medical degree.Rando joined the neurology faculty at the Stanford University School of Medicine in 1995.There, he founded a clinic to t...
Source: UCLA Newsroom: Health Sciences - December 10, 2021 Category: Universities & Medical Training Source Type: news