What is muscular dystrophy
Muscular dystrophy is a group of degenerative neuromuscular diseases that cause muscle weakness and progressive loss of skeletal muscle mass compromising strength, power mobility, breathing and heart function.
This damage is due to genes mutations that cause the lack of a protein called dystrophin needed for normal muscle function.
Symptoms of muscular dystrophy
The scientific research has identified about thirty types of muscular dystrophy of genetic origin but the most common are Duchenne muscular dystrophy and Becker muscular dystrophy.
However, the typical clinical feature is a progressive worsening in neuromotor development.
Duchenne muscular dystrophy
This condition typically involves boys and affects one child out of 3,500.
First symptoms appear between the ages of 3 and 5 and may include:
- Difficulty in standing up (crawling test Gower’s test)
- Frequent falls
- Trouble in walking, running and climbing stair
- Waddling gait
- Walking on tiptoes (link)
It is characterized by a progressive difficulty in movement that becomes total between the age of 10 and 14
Becker muscular dystrophy
This condition typically affects males (1 out of 18.000/31.000) around 11 years of age. The main symptoms is muscle weakness but it is milder and has a slower progression than Duchenne muscular dystrophy.
Muscular dystrophy treatment
There is no cure for muscular dystrophy at the moment.
Currently, research is mainly focused on the development of targeted gene therapies.
The management of the patient aims to preserve his quality of life and to delay as much as possible bed rest, immobility, ulcers and death
About Professor Portinaro
Prof. Portinaro has a wide experience and particular aptitude for neurological conditions.
He is indeed the founder and scientific director of an Italian non-profit organization that supports families with children affected by neuromotor disabilities: Fondazione Ariel.
Prof. Portinaro and his team spend a large part of their work in international research projects to discover new treatments for childhood neuromotor disorders.