Genetic Myopathies by Dr Saraji Wijesekara
Channel: ASN Neurology
Date: 2021-06-28

Webinar 15 - 10 Pearls Series

Webinar series conducted by the Association of Sri Lankan Neurologists targeted at the Medical Officers, Medical Registrars, General Physicians, Family Physicians and Medical Students. A journey of 32 neurology topics, each with 10 pearls.

The fifteenth lecture in the series, Genetic Myopathies is delivered by Dr Saraji Wijeseakra who is the current secretary of the Association of Sri Lankan Neurologists. She is a Consultant Paediatric Neurologist currently attached to the Colombo South Teaching Hospital of Sri Lanka and is a Senior Lecturer in Paediatrics at the Faculty of Medical Sciences, University of Sri Jayawardenepura.

10 Pearls of this lecture
1. Genetic myopathies are a rare group of conditions predominantly affecting skeletal muscles.
2. Patients present at different ages in their lives.
3. The muscles as well as other systems may be affected.
4. Availability of genetic studies have widened the diagnosis.
5. Rare metabolic myopathies present as exercise induced leg pain.
6. Mitochondrial genetics are inherited from the mother.
7. The management is mostly supportive.
8. Recent advances in targeted gene therapy have shown some promising results.
9. Mortality rates vary in different conditions ; however significant morbidity exists.
10. Regional state of the art centres and dissemination of knowledge on these conditions will improve outcomes for SL.

Thumbnail artwork - Photo by Alexander Jawfox on Unsplash

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