ANO5 Alliance
Our association helps the LGMD 2L (R12) community and encourage research towards a cure. We believe that genetic therapy is the most effective way today towards an improvement of the situation of all 2L patients.
What’s LGMD 2L?
It’s a rare genetic desease that prevents muscle cells from producing ANO5 protein. This protein is key for muscle restoration, so muscle cells keep destroying over time. Patients lose strength progressively, mostly on legs and arms.
Genetic disorder
The ANO5 gene has some anomaly that prevents the protein to be produced. This is usually confirmed by a genetic testing. The disease is usually inherited. It’s supposed to affect 1 out of 200 000 people.
ANO5 protein missing
This protein is involved in muscle cells membrane reparing. When the protein is not there, the repairing is not efficient and the cell dies, liberating Creatine Kinase. High CK is the main blood indicator to identify the disease.
Limb Girdle Muscular Dystrophy
The muscular dystrophy affects mainly arms and legs (around hips and shoulders), because these muscles are long and they need more repairing.
Onsetting
It is usually late. Although symptoms may appear before, it’s usually in the 30’s that most patients realize that something is wrong.
Evolution
Most patients can still walk at 50’s but many can’t run, struggle climbing stairs or standing up from the floor and fatigue is important when doing any exercice. Some need a wheel chair on their daily lives
Living with LGMD 2L
We need adapted physical activity, avoid excessive muscle damage, management of fatigue and occupational adaptations.
Why there’s hope
Although there’s no cure today for LGMD 2L, there are strong reasons for optimism. Advances in genetics, molecular medicine, and clinical research are opening new possibilities for rare muscular diseases.
Gene based therapies are progressing
- Researchers are developing approaches such as:
- gene replacement: providing cells with a functional copy of a defective gene;
- gene editing: correcting specific genetic errors;
- RNA-based therapies: modifying how genetic information is used by cells;
- cell-based approaches: using advanced biological strategies to restore muscle function.
- While each disease presents unique challenges, the progress achieved in other neuromuscular diseases demonstrates that genetic therapies can become a reality.
We need you
- Every patient contributes to a better understanding of the disease. Patients can participate to Natural History Studies, Research Programs or Clinical Trials.
- Family members and friends are needed to help in daily life and spread awareness.
- Everyone can help by donating to our association through
A cure for LGMD2L does not exist today, but the scientific foundations needed to create one are being built. By bringing patients, researchers, clinicians, and organizations together, we can accelerate discoveries and transform hope into future treatments.
Paul Cabanillas
President of ANO5 Alliance association
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