NEUROLOGICAL DISORDERS

Muscular Dystrophy

 

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.

Download Prof. Portinaro's free ebook

If you want to discover more on Cerebral Palsy and other neurological diseases

Fill in the form below and you will receive a link to download Professor Portinaro’s ebook on neurological disorders.

PATIENT RESOURCES

Discover How Prof. Portinario Deals With His Patients

OUR RESEARCH

Discover more on Prof. Portinaro’s scientific researches: