Search engine for discovering works of Art, research articles, and books related to Art and Culture
ShareThis
Javascript must be enabled to continue!

GNE Myopathy: Rare Muscle Weakness Disease

View through CrossRef
GNE myopathy is a rare autosomal recessive muscle-atrophying disease. It is caused by mutations in the glucosamine GNE gene that decrease sialic acid production, thereby disrupting muscle function. This disease advances slowly, progressively paralyzing the person and eventually leading to complete immobilization.  The symptoms of GNE myopathy are very mild at first and may resemble a myriad of other diseases, and diagnosis is especially difficult due to slow onset of symptoms. Doctors also frequently misdiagnose this disease due to its rarity and mild initial symptoms. There is currently no cure for this debilitating disease. However, the University of Iowa has partnered with multiple institutions across the United States in order to conduct clinical trials on ManNAc. ManNAc is the first committed biological precursor of sialic acid, which may help slow down the progression of GNE myopathy.This science comic was created in order to better communicate the intricacies of GNE myopathy to a wider audience. The fictional story follows a girl, Anne Ominous, who discovers that she has the disease. The comic tries to realistically depict the challenging journey that many GNE myopathy patients must endure and offers hope that the clinical trials of ManNAc will meet FDA approval and become available soon.
Title: GNE Myopathy: Rare Muscle Weakness Disease
Description:
GNE myopathy is a rare autosomal recessive muscle-atrophying disease.
It is caused by mutations in the glucosamine GNE gene that decrease sialic acid production, thereby disrupting muscle function.
This disease advances slowly, progressively paralyzing the person and eventually leading to complete immobilization.
  The symptoms of GNE myopathy are very mild at first and may resemble a myriad of other diseases, and diagnosis is especially difficult due to slow onset of symptoms.
Doctors also frequently misdiagnose this disease due to its rarity and mild initial symptoms.
 There is currently no cure for this debilitating disease.
However, the University of Iowa has partnered with multiple institutions across the United States in order to conduct clinical trials on ManNAc.
ManNAc is the first committed biological precursor of sialic acid, which may help slow down the progression of GNE myopathy.
This science comic was created in order to better communicate the intricacies of GNE myopathy to a wider audience.
The fictional story follows a girl, Anne Ominous, who discovers that she has the disease.
The comic tries to realistically depict the challenging journey that many GNE myopathy patients must endure and offers hope that the clinical trials of ManNAc will meet FDA approval and become available soon.

Related Results

Multidimensional analyses of the pathomechanism caused by the non-catalytic GNE variant, c.620A>T, in patients with GNE myopathy
Multidimensional analyses of the pathomechanism caused by the non-catalytic GNE variant, c.620A>T, in patients with GNE myopathy
Abstract Background GNE myopathy is an autosomal recessive distal myopathy caused by biallelic variants in GNE, which encodes a protein involved in sialic acid biosynthesis...
GNE Myopathy as a Myofibrillar Myopathy: Potential Important Disease Mechanism Implied by Muscle Biopsy
GNE Myopathy as a Myofibrillar Myopathy: Potential Important Disease Mechanism Implied by Muscle Biopsy
AbstractWe report a case of 2 sisters in their 20s with genetically confirmed UDP-N-acetylglucoasmine 2-epimerase/N-acetylmannosamine kinase myopathy along with muscle biopsy findi...
A recurrent GNE variant causing GNE myopathy in unrelated patients from Pakistan: a case series
A recurrent GNE variant causing GNE myopathy in unrelated patients from Pakistan: a case series
Abstract Background GNE myopathy, also referred to as bifunctional UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase myopathy, is a ...
Identification of a GNE homozygous mutation in a Han‐Chinese family with GNE myopathy
Identification of a GNE homozygous mutation in a Han‐Chinese family with GNE myopathy
AbstractGNE myopathy is a rare, recessively inherited, early adult‐onset myopathy, characterized by distal and proximal muscle degeneration which often spares the quadriceps. It is...
Poster 247: Muscle ERRγ Overexpression Mitigates the Muscle Atrophy after ACL injury
Poster 247: Muscle ERRγ Overexpression Mitigates the Muscle Atrophy after ACL injury
Objectives: Anterior cruciate ligament (ACL) reconstruction is the 6th most common orthopedic procedure performed in the United States (1,2). There is substanti...
Aberrant O‐GlcNAcylation disrupts GNE enzyme activity in GNE myopathy
Aberrant O‐GlcNAcylation disrupts GNE enzyme activity in GNE myopathy
UDP‐N‐acetylglucosamine 2‐epimerase/N‐acetylmannosamine kinase (GNE) is the key enzyme for the biosynthesis of sialic acids. Sialic acids are terminal monosaccharides of glycoconju...
Novel GNE compound heterozygous mutations in a GNE myopathy patient
Novel GNE compound heterozygous mutations in a GNE myopathy patient
ABSTRACTIntroduction: Molecular studies have revealed that some patients with myopathies with rimmed vacuoles have pathogenic mutations in the UDP‐N‐acetylglucosamine‐2‐epimerase/N...

Back to Top