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Joseph Samaha, Jim Dagher, Shayan Abdollah Zadegan

Huntington’s disease (HD) is a neurodegenerative disease inherited in an autosomal dominant manner. It is caused by an expansion of cytosine, adenine, guanine (CAG) repeats within the huntingtin (HTT) gene, which is located on chromosome 4. This pathological expansion of CAG repeats results in the production of a mutant huntingtin protein with an abnormally long polyglutamine […]

Jackie Palace, Rare Disease Day 2022: Improving diagnosis and treatment of neuromyelitis optica spectrum disorder

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Published Online: Feb 28th 2022

Prof. Jackie Palace (Nuffield Department of Clinical Neurosciences, Oxford University, Oxford, UK) joins us for Rare Disease Day to discuss neuromyelitis optica spectrum disorder (NMOSD), how it differs from multiple sclerosis, and the major barriers patients face in diagnosis and treatment. She also discusses the use of multidisciplinary teams in providing support and advice to patients and their families.

Touch Medical Media are supporting Rare Disease Day (28 February 2022) to shine a light on healthcare inequalities for people living with Rare Diseases, focusing on patient quality of life and the difficulty of diagnosing patients early.

Questions:

  1. Could you explain how NMOSD is different from MS and its impact on daily life, lifestyle and health outcomes? (0:30)
  2. What are the major barriers to diagnosis and treatment for patients with NMOSD? (2:32)
  3. Why is prevention of relapse an important treatment goal for patients diagnosed with NMOSD? (5:41)

Disclosures: Jackie Palace has nothing to disclose in relation to this video.

Support: The production of this video was supported by Touch Medical Media.

Other content available in support of Rare Disease Day includes:

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