• symptoms
  • Here, we describe the clinical features of several members of the same family diagnosed with Friedreich ataxia (FRDA) and cerebral lesions, demyelinating neuropathy, and late-age onset without a significant cardiac involvement and presenting with similar symptoms, although genetic testing was negative for the GAA repeat expansion in one patient of the family. (hindawi.com)
  • disorders
  • E ditor -Microdeletions of chromosomal region 22q11.2 (del22q11) have been associated with several genetic disorders, including DiGeorge syndrome (DGS), velocardiofacial syndrome (VCFS), and conotruncal anomaly face syndrome (CTAFS). (bmj.com)
  • ataxia
  • However, in recent years since Genetic testing has become available, it is now known that Friedreich's Ataxia has an adult onset on some occasions. (wordpress.com)
  • Changes
  • Dr. Kim works closely with Angioma Alliance and is a lead investigator on the Brain Vascular Malformations Consortium project where her team is looking for genetic changes (modifiers) responsible for CCM symptom variation within families. (angiomaalliance.org)
  • done
  • Other tests that can be done are chest X-ray, echocardiogram, CT scan, and magnetic resonance image scan, which via a magnetic field can produce images whose detail helps diagnose muscular dystrophy. (wikipedia.org)
  • seen
  • Dr. Morrison has worked with Dr. Doug Marchuk, another of our scientific advisors, performing a genetic analysis on those with the common Hispanic cavernous angioma founder mutation who are being seen at UNM. (angiomaalliance.org)