Genetic analysis beyond the causative variants, and independent of the core clinical symptoms (pyramidal signs versus ataxia), might offer a more pertinent way to approach phenotypic variability.

Panelists discuss how the differential diagnosis for Friedreich's Ataxia involves distinguishing it from other ataxias, the process of definitive diagnosis through genetic testing, and the ...

A Friedreich ataxia specialist discusses how the typical clinical presentation of Friedreich's Ataxia includes early onset with symptoms such as ataxia and sensory loss, while also examining the ...

necessitating distinct therapeutic approaches Friedreich ataxia (FRDA) is caused by deficiency of a mitochondrial protein, frataxin, which has direct antioxidant and iron-regulatory functions ...

Hereditary hemorrhagic telangiectasia (HHT ... The primary clinical manifestation is epistaxis that results in iron-deficiency anemia and reduced health-related quality of life.

It took years until a specialist uncovered the real cause: iron deficiency. Dr. Michelle Sholzberg, a hematologist and scientist at St. Michael's Hospital in Toronto, told Williams her exhaustion ...

Her expertise is in personal finance and investing, and real estate. A deficiency judgment is a court ruling against a debtor who is in default on a secured loan when the sale of the property that ...

MOUNT VERNON, Ky. (LEX 18) — The parking lot of the Mt. Vernon IGA was packed Wednesday morning, after the store announced its closure on Facebook Tuesday. "This is unreal, it really is," said ...

But the tournament has now lost Iga Swiatek just one day after several big names pulled out of the draw. Days before the Korea Open kicks off, the field has fallen apart. World No. 1 Swiatek is ...

The koala decided to pay the Meeniyan IGA — off the south Gippsland Highway in Victoria — a visit last week. The koala decided to pay the Meeniyan IGA a visit last week. Picture: Instagram/@ ...

1 Iga Swiatek will have something to say about that. Sabalenka’s gritty 7-5, 7-5 win over Jessica Pegula felt like a landmark victory for a number of reasons. It is Sabalenka’s first Grand ...

Iga Swiatek and Jessica Pegula will play for the 10th time in the US Open quarterfinals; Swiatek leads the head-to-head 6-3. Watch their best points from the 2019 Washington second round, 2022 Miami ...