Friedreich's ataxia


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Synonyms for Friedreich's ataxia

sclerosis of the posterior and lateral columns of the spinal cord

References in periodicals archive ?
Friedreich's ataxia is an inherited, degenerative neuromuscular disorder that initially impairs motor function, such as gait and coordination, but can lead to scoliosis, heart disease, vision loss and diabetes.
He plans to reach the 19,341ft summit with former cruiserweight boxing champion Glenn McCrory - whose brother also suffered from Friedreich's Ataxia.
Pharmaceutical company Jupiter Orphan Therapeutics Inc (JOT) reported on Tuesday the receipt of the US Food and Drug Administration (FDA) orphan drug designation for its patented formulation of trans-resveratrol product, JOTROL, for the treatment of Friedreich's Ataxia.
Friedreich's ataxia (FA), being the most common AR-linked ataxia type, is caused by guanine-adenine-adenine (GAA) trinucleotide repeats in the first intron of the FRDA gene at the 9q21.
Differential diagnoses included Friedreich's ataxia, multiple sclerosis and diabetic, alcoholic, autoimmune or toxic peripheral neuropathy.
The one negative thing about the job is if Marta, who has a rare disease called Friedreich's Ataxia, a debilitating neuro-muscular disorder, has to attend a meeting, whether it's medical or community related.
Friedreich's ataxia (FRDA), an inherited, progressive neurodegenerative disease, is caused by a reduced expression of the mitochondrial iron-binding protein, frataxin.
present interesting data on a drug screen performed using two different models of Friedreich's ataxia, yeast and Drosophila.
While the signs of cerebellar dysfunction had started acutely, their continuation for more than 2 weeks prompted further investigation for an inherited cause of progressive chronic ataxia (our differential diagnosis included ataxia telangiectasia (no telangiectasia were present clinically and the immunoglobulin levels were normal), abetalipoproteinaemia, Friedreich's ataxia and spinocerebellar ataxia.
Trott is a wheelchair user with a degenerative neuro-muscular disease known as Friedreich's Ataxia.
The purpose of other study was to investigate the effects of whole-body vibration on blood flow velocity and muscular activity after different vibration protocols in Friedreich's ataxia patients.
Lauren has Friedreich's Ataxia, a progressive neurological rologi illness which prevents her from standing for long periods.
Rare diseases, including the company's initial focus, Friedreich's Ataxia, take a devastating toll on patients, families and the health-care system.
AAVLife has raised $12 million in Series A financing to advance into clinical studies the promising work on Friedreich's ataxia recently reported in Nature Medicine.
The firm's pipeline also includes preclinical programmes for a monogenic form of amyotrophic lateral sclerosis (ALS) and Friedreich's ataxia.