What is degenerative muscle disease

Muscle disorders (myopathy) | Specialists & information

What types of myopathies are there?

In the primary myopathies four types distinguish:

  • the muscular dystrophies
  • the myotonic syndromes
  • the congenital myopathies
  • the mitochondrial myopathies

As Muscular dystrophies (Muscle wasting) is called one Group of degenerative muscle diseases. It is about Hereditary diseaseswhich are characterized by a progressive breakdown of the muscles. The most common forms of muscular dystrophy are the Duchenne myopathy and the Becker-Kiener muscular dystrophy. The limb girdle dystrophies and the Emery Dreifuss muscular dystrophy type 1 also belong to the muscular dystrophies.

Characteristic of the myotonic syndromes are prolonged muscle tension. This group includes, for example, myotonia congenita Thomsen or myotonic dystrophy type 1.



Congenital myopathies feed immediately after birth Muscle weakness. Typical representatives of this group are Brody's disease and myotubular myopathy.

The mitochondrial myopathies there is a disturbance in the energy metabolism of certain cell components, the so-called mitochondria.

Of the primary myopathies are the secondary myopathies to delimit. They are not to be classified as an independent disease, but rather a symptom of an underlying disease. For example, myopathies can occur in the context of an underactive thyroid or vitamin D deficiency.

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What are the causes?

Most muscle diseases are based on Mutations in the genome. For example, the genetic diseases in muscular dystrophy of the Duchenne type lead to a deficiency or defects in proteins in the muscles. Myotonic dystrophy type 1 is based on a genetic defect on chromosome 19, whereas in Brody's disease the coding gene ATP2A1 is affected. As a result, muscle function is impaired.

To the Causes of Secondary Myopathies include among others:

Myopathy can also be caused exogenously: Toxins, alcohol or drugs such as statins or cortisone can be the cause of myopathy.

What are the symptoms of myopathy?

The main symptom of myopathy is one Muscle weakness, Sensory disorders, however, do not occur. The severity of this muscle weakness depends primarily on the cause of the myopathy. Mild myopathies show up, for example, through weakness during or after exercise. Myopathies such as Duchenne muscular dystrophy, on the other hand, usually have a more severe course. The muscle weakness is initially only noticeable through frequent stumbling or falling. From the age of 5 to 7, those affected can only get up from sitting with help. From the age of 12, most children with Duchenne muscular dystrophy are dependent on a wheelchair; from the age of majority, patients usually require full care.

How are muscle diseases diagnosed?

If a myopathy is suspected, the doctor will usually perform one Electromyography (EMG) by. Using this neurological diagnostic method He can measure the electrical muscle activity and thus determine whether the muscle weakness has a neurological or a muscular cause.

Imaging procedures like computed tomography or magnetic resonance tomography, muscles are particularly affected.

The provides further information on possible causes Laboratory diagnostics. For example, the blood provides information about nutrient deficiencies or can be used for genetic examinations.

A Muscle biopsy, in which the doctor takes a tissue sample from the muscle and then takes it to the laboratory histological examination sends, serves to further confirm the diagnosis.



How are muscle diseases treated?

Therapy for myopathy depends on the cause.

At secondary myopathies the doctor treats them Underlying disease and can thus also alleviate muscle weakness. For example, patients with an underactive thyroid receive thyroid hormones, and in the case of a vitamin or mineral deficiency, substituting the relevant vital substance brings relief.

A causal treatment is with the primary myopathies however not possible. The aim of the therapeutic measures is to keep the consequences of muscle weakness low for as long as possible.

physiotherapy and drug therapies can relieve symptoms and help maintain muscle strength. Occupational therapy on the other hand, helps the patient cope with everyday life. Furthermore, those affected benefit from appropriate Tools like a walking stick, a rollator or a wheelchair.

If not only the skeletal muscles but also the heart muscles are affected by the muscle weakness, a medical therapy be helpful. The patients then receive drugs to treat cardiac arrhythmias such as mexiletine or phenytoin. If necessary, the doctor can also implant a pacemaker for therapy.

The myopathies are therefore a group of muscle diseases with a wide variety of causes. The symptoms and the treatment of the muscle diseases are just as varied as the causes.