Muscular dystrophies

"The prognosis is extremely variable, depending on the type of dystrophy suffered".

DR. MARIO RIVEROL FERNÁNDEZ
SPECIALIST. NEUROLOGY DEPARTMENT

Muscular dystrophies are a heterogeneous group of genetic diseases that cause degeneration and weakness of skeletal muscle.

There are some types of muscular dystrophy that affect the heart, eyes, spine, endocrine glands, brain, etc.

The most frequent are: Duchenne's, Becker's, congenital, and Emery-Dreifuss, which usually begin in childhood. Those of waist, fascioescapulohumeral, more present in youth, and the myotonic and distal in adults.

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What are the symptoms of muscular dystrophy?

They all have some degree of muscle weakness. This can affect more proximal portions, with difficulty raising the arms, picking up objects, combing one's hair, getting up from an armchair or climbing stairs. Some varieties produce more pronounced weakness of hands or feet.

Eventually, muscle atrophy occurs, but some muscles may become hypertrophied. The muscular imbalance conditions that appear in many of the muscular dystrophies skeletal alterations, such as scoliosis, tendinous retractions and articular limitations. If there is heart involvement, this can manifest itself as arrhythmias (palpitations) or heart failure.

The most common symptoms are:

  • Muscle weakness.
  • Muscle atrophy.
  • Articular limitations.
  • Tendon retractions.

Do you have any of these symptoms?

You may have muscular dystrophy

What are the causes of muscular dystrophy?

Muscular dystrophies are due to genetic defects that cause some muscle protein to be defective or not to be produced in the required amount. This causes muscle tissue to degenerate and be replaced by fibrous tissues unable to perform normal muscle function.

In some, not only the diseased muscle, but also other tissues, such as the heart or brain. In many of them, the genetic defects are identified and the inheritance pattern is known. In spite of being genetic diseases, in a wide group of them, affected relatives are not identified, since they are caused by spontaneous mutations, not present in them. Some depend on the sex of the individual.

What is the prognosis for muscular dystrophy?

The prognosis varies according to the type of muscular dystrophy and the speed of evolution. Some types are mild and evolve very slowly, resulting in a normal life expectancy, while others are more severe and cause functional disability and loss of ambulation. 

Life expectancy may depend on the degree of muscle weakness and any respiratory or cardiac complications. 

How is muscular dystrophy diagnosed?

The diagnosis of a muscular dystrophy is based on the identification of the inheritance pattern, the clinical data and the performance of complementary tests.

Among these, it is practically essential to perform an electromyography and, in most cases, a muscle biopsy.

Genetic tests can be performed on muscle tissue or blood and, on occasion, allow some of the aforementioned tests to be omitted.  

Frequently, a cardiological evaluation is necessary.

How is muscular dystrophy treated?

There are no specific treatments for most dystrophies.

The treatment is aimed at keeping the patient independent for as long as possible and avoiding complications.

Duchenne muscular dystrophy responds temporarily to steroid treatments, which slow down the rate of muscle deterioration. Also to immunosuppressants (cyclosporine, azathioprine), anticonvulsants. Mexiletine, baclofen may relieve myotonia somewhat. All can be used to treat the symptoms of muscular dystrophy.

Secondary skeletal disorders are treated with orthopedic therapies, rehabilitation, and eventually surgery. Some associated heart diseases require cardiac medication or pacemaker implantation.

Where do we treat them?

IN NAVARRE AND MADRID

The Department of Neurology
of the Clínica Universidad de Navarra

The Neurology Department has extensive experience in the diagnosis and multidisciplinary treatment of neurological diseases.

We offer a diagnosis in less than 72 hours, along with a proposal for personalized treatment and post-consultation follow-up of the patient by our specialized nursing team.

We have the most advanced technology for an accurate diagnosis with cutting-edge equipment such as HIFU, deep brain stimulation devices, video EEG, PET and epilepsy surgery, among others.

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