The Croonian Lecture 2019: from diagnosis to therapy in Duchenne muscular dystrophy

The Croonian Lecture 2019 given by Dame Kay Davies DBE FMedSci FRS.

Genetic approaches for the diagnosis and treatment of inherited muscle diseases have advanced rapidly in recent years. Most of the advances have occurred in the treatment of Duchenne muscular dystrophy (DMD), a muscle wasting disease where patients present with difficulties walking upstairs around the age of 3-5 years and are typically wheelchair bound by age 12. Affected boys generally die from respiratory failure or cardiomyopathy in their twenties.

The identification of the gene causing DMD in 1986 resulted in improved diagnosis of the disease and the identification of hotspots for mutation. However there is currently no effective treatment.

Dame Kay explored several promising genetic approaches at the preclinical stage or in clinical trials including exon-skipping, read-through of stop codons, delivery of dystrophin minigenes and the modulation of expression of the dystrophin related protein, utrophin. In spite of significant progress, the problem of targeting all muscles including diaphragm and heart at sufficiently high levels remains a challenge. However, DMD therapy is at an exciting stage and the current status of development of these therapies was presented.

[bibothebuilder]

I hope they finish this therapy soon for our children, ,time is very very important for patients

[bibothebuilder]

Any idea when it will be available for patients .

[rajpriya]

When available this treatment in India and this any help lgmd

[livintolearn]

I doubt you can get any more British than this XD

[SunilKumarplanet]

मुझे भी यह समस्या थी और मैंने Planet Ayurveda के साथ अपना इलाज शुरू किया। अब मैं ठीक हूं। तो, अगर किसी को इस तरह की समस्या या किसी अन्य स्वास्थ्य संबंधी समस्या का सामना करना पड़ रहा है। आपको Planet Ayurveda जाना चाहिए।