Neuromuscular Disease

Genetic testing and counseling for inherited cardiovascular diseases may help patients and their families make well-informed decisions about managing their heart health, according to "Genetic Testing for Inherited Cardiovascular Diseases," a new scientific statement from the American Heart Association, published today in the Association's journal Circulation: Genomic and Precision Medicine.

A muscle fiber consists of just one cell, but many nuclei. A team has now shown just how varied these nuclei are. The study can help us better understand muscle diseases such as Duchenne muscular dystrophy.

Tofersen is an investigational molecule for superoxide dismutase 1 (SOD1) amyotrophic lateral sclerosis (ALS), the second most common genetic form of ALS, a ...

Tofersen is an investigational molecule for superoxide dismutase 1 (SOD1) amyotrophic lateral sclerosis (ALS), the second most common genetic form of ALS,...

The Van Doormaal family started a crowdfunding page to raise money for their baby's treatment, though in a surprise twist it was paid for.

Genetic testing for heart diseases may help patients and families identify risks.  BrinkwireNew AHA Statement on Genetic Testing for Inherited CVD  MedscapeGenetic testing for heart diseases may help patients and families identify risks  Medical XpressView Full coverage on Google News

'He was constantly surrounded by love and happiness, and we know he's made an impact on anyone he's met'.

DR MARTIN SCURR: Some 40 per cent of adults experience night cramps, resulting in sleep disturbance and contributing to poor health and they are increasingly frequent with age.

Damaged muscles don't just die, they regenerate themselves  Science Codex

U of A medical geneticist Toshifuma Yokota led a research team that created a potential new treatment for one of the most common forms of muscular...

A heartbroken mother who lost her daughter at seven months old before discovering that her second unborn child had the same fatal condition as her first has revealed what everyone … Read More

In May 2019, the U.S. Food and Drug Administration approved a gene replacement therapy for the inherited, progressive neuromuscular disease 5q-linked spinal muscular atrophy.

The aberrant buildup of misfolded proteins is a hallmark of a host of disorders, including neurodegenerative diseases such as Alzheimer's and Parkinson's.

The RACGP is offering new accredited training to help upskill GPs to recognise the warning signs for spinal muscular atrophy.

Shane Burcaw, 27, from Pennsylvania, was born with Spinal Muscular atrophy, has opened up about his sex life and intimacy with fiancée Hannah Aylward on their YouTube channel.