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Medical first: Doctors attempt to gene-edit a living patient's DNA
A man may soon be forever free of the previously incurable disease he was born with 44 years ago. On Monday, in a medical first, Brian Madeux received an experimental in-body gene-editing treatment intended to cure him of Mucopolysaccharidoses II, known as MPS II or Hunter syndrome, a rare disorder that causes progressive damage to the body's cells. (Source: CNN.com - Health)
Source: CNN.com - Health - November 16, 2017 Category: Consumer Health News Source Type: news

New biomarker found for group of rare metabolic diseases
(University of Pennsylvania School of Medicine) A newly discovered biomarker associated with a rare metabolic disorder may facilitate better diagnosis and identification of new drugs for clinical trials for the disease. Development of treatments for the neurological symptoms of mucopolysaccharidoses, a family of rare genetic disorders, have been hindered by the lack of objective measures of the extent of central nervous system damage in patients. (Source: EurekAlert! - Medicine and Health)
Source: EurekAlert! - Medicine and Health - August 7, 2017 Category: International Medicine & Public Health Source Type: news

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

Orthopaedic Surgery for MPS DisordersOrthopaedic Surgery for MPS Disorders
Learn more on the clinical findings in mucopolysaccharidoses and treatment strategies for patients with these disorders. Current Orthopaedic Practice (Source: Medscape Orthopaedics Headlines)
Source: Medscape Orthopaedics Headlines - February 8, 2013 Category: Orthopaedics Tags: Orthopaedics Journal Article Source Type: news