Muscle wasting: information & doctors for muscle wasting

29.11.2023
Dr. Claus Puhlmann
Medical Author

Muscle atrophy is also known as muscular atrophy or muscular dystrophy. The term refers to the breakdown of muscles in general and covers a wide range of muscular diseases. A distinction must be made between muscle atrophy caused by too little exercise and muscle atrophy as an independent neuromuscular disease.

Here you will find further information and selected muscle atrophy specialists and centers.

ICD codes for this diseases: M62.5

Recommended doctors for muscle atrophy

Brief overview:

  • What is muscle wasting? The breakdown of muscles due to various causes. It is generally understood to be a neuromuscular disease and not the loss of muscle mass due to physical inactivity.
  • Forms: Myogenic muscle atrophy (the muscles themselves are diseased), neurogenic muscle atrophy (the muscles are not sufficiently supplied).
  • Cause: A genetic defect, an autoimmune disease and other diseases such as cancer or HIV.
  • Symptoms: Difficulties with everyday movements, swallowing and speech disorders, lack of strength, restricted organ functions, slowed physical development with congenital muscle atrophy.
  • Treatment: The disease cannot be cured, only its effects mitigated. Options are: Medication, physiotherapy, occupational therapy, electrotherapy, ultrasound therapy, massages and baths and others.
  • Prognosis: The prognosis depends on the cause of the disease. Accordingly, the disease can be mild and hardly affect quality of life and life expectancy, but it can also lead to death at a young age.

Article overview

What is muscle atrophy?

Over 600 muscles support and move the body. They are also involved in various organ functions.

Muscle wasting (ICD code: M62.5) basically means the loss of muscle mass. There are various causes for this, including, for example

However, muscle atrophy can also be congenital.

The disease only affects relatively few people. In Germany, an estimated 50,000 to 300,000 people live with muscle atrophy.

Muskulatur Muskeln
Muscle apparatus in humans © adimas / Fotolia

Muscle diseases and muscle atrophy have not yet been fully researched scientifically.

Around 800 forms of muscle disease are now known. As a result, it has not yet been possible to provide precisely tailored medication for the various forms of muscle atrophy.

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Depending on the severity and context of the disease, muscle wasting can progress very differently. Some people are hardly affected by this disease. Others can develop severe symptoms within a relatively short period of time. Premature death is also possible.

Muscle diseases progress in episodes, i.e. irregularly and with varying degrees of progression.

In the majority of cases, a cure is not possible and spontaneous natural recovery does not occur.

Causes: Accompanying symptom of inactivity and genetic defects

Muscle atrophy due to lack of exercise

If muscles are not used, the body breaks them down, as muscles require a lot of energy. Physical inactivity and bedriddenness therefore cause many muscles to atrophy. Seniors with an inactive lifestyle are particularly at risk of this type of muscle atrophy.

This phenomenon is clearly noticeable after a few days of bed rest. Patients then complain of a lack of strength. They then need some time to regain their strength and their previous level of activity.

This is why patients are mobilized as quickly as possible during a hospital stay using physiotherapy. The muscles then remain largely intact.

Mobilisierung gegen Muskelschwund
Mobilization and exercise prevent muscle atrophy in old age. © gewitterkind / Fotolia

Muscle atrophy as an independent disease

Muscle atrophy as a neuromuscular disease, on the other hand, affects nerves and muscles. The disease progresses steadily.

If the muscles themselves are affected, this is referred to as myogenic muscle atrophy, also known as myodystrophy or myopathy.

Neurogenic muscle atrophy (spinal muscular atrophy) is the term used when the cause lies in the cells that supply the nerves.

The myogenic forms include

  • Duchenne muscular dystrophy (Duchenne muscular dystrophy, DMD) and
  • Becker muscular dystrophy (Becker muscular dystrophy, BMD).

These diseases occur almost exclusively in males.

In Duchenne muscular dystrophy, there is a defect in the gene for dystrophin. Dystrophin is found in the cell membrane of muscle fibers and plays an essential role in muscle contraction. If this protein is missing, as in children with DMD, motor development is impaired.

Most children with DMD can never jump or run and their gait is unsteady. Between the ages of 6 and 13, they usually lose the ability to walk independently. Due to heart muscle disease or inadequate breathing, patients usually die in early adulthood.

In Becker muscular dystrophy, on the other hand, there is a lack of dystrophin due to genetic mutations. This also results in progressive muscle atrophy and weakness. However, life expectancy is only slightly reduced or not reduced at all.

Known forms of neurogenic muscle atrophy are

  • Werdnig-Hoffman disease (proximal spinal muscular atrophy type 1, SMA1) and
  • Kugelberg-Welander disease (proximal spinal muscular atrophy type 3, SMA3)

The diseases were named after the scientists who researched them. The diseases are also genetically inherited, but occur in boys and girls.

SMA3 only manifests itself after learning to walk through difficulties in walking etc. It progresses slowly. It only progresses slowly.

SMA1 occurs within the first three months of life. It is much more pronounced in terms of symptoms.

Children with SMA1 often die within the first 2 years of life, while children with SMA3 usually have a normal life expectancy.

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Amyotrophic lateral sclerosis (ALS) is a neurodegenerative disease. It only occurs in later adulthood. The average age of onset is around 60 years.

ALS causes damage to certain nerve cells (motor neurons) in the central or peripheral nervous system. This affects the muscles and therefore motor function. Depending on which motor neurons are affected, this can lead to, among other things

  • Walking disorders,
  • twitching,
  • paralysis,
  • sensations on the skin,
  • speech disorders and
  • swallowing disorders

can occur. The paralysis continues to progress. As a result, the disease usually leads to death within a few years due to respiratory failure.

Only around 5 to 10 percent of ALS cases are familial (inherited), most develop spontaneously.

The most important causes of muscle atrophy at a glance:

  • Age or malnutrition
  • Physical inactivity or (necessary) bed rest
  • Genetic mutations that lead to disorders in muscle activity and the nervous system
  • Autoimmune diseases
  • Other diseases such as cancer or HIV infection

First signs and symptoms of muscle wasting

The first signs of muscle wasting are often overlooked or downplayed. These can include

  • Difficulties with everyday movements, for example climbing stairs and walking, or
  • swallowing and speech disorders

be. A change in posture is also one of the symptoms. The skeletal muscles are then no longer able to fully support the skeleton.

Children with congenital muscle weakness due to a genetic defect show slower physical development. Compared to children of their age group, their movement patterns are atypical, for example when

  • sitting down,
  • standing up or
  • walking.

Pediatricians therefore monitor the child's developmental progress during regular examinations.

Physiotherapie Kind
Physiotherapy helps children with muscle atrophy © Picture-Factory / Fotolia

Early diagnosis at birth helps affected children. Appropriate therapies and orthopaedic aids promote the child's physical development.

People affected by muscle atrophy experience a distinct lack of strength. They may also suffer from restricted organ function.

If the muscles continue to deteriorate,

  • Breathing becomes difficult,
  • digestive activity is restricted and
  • the heart is weakened.

If the disease is severe, the muscle atrophy brings vital organ functions to a standstill. If breathing or the heart are affected, muscle wasting becomes a life-threatening disease.

Differentiation from multiple sclerosis

Multiple sclerosis also causes muscle disorders. However, muscle wasting is only partially related to multiple sclerosis. The difference lies primarily in the causes and symptoms.

Multiple sclerosis is a chronic inflammatory disease of the nerves. The myelin sheath, i.e. the electrically insulating outer layer of the nerve fibers, is destroyed in phases. Multiple sclerosis is therefore a neurological disease that leads to disorders of the muscle cells.

Multiple sclerosis is also known as the "disease of a thousand faces", as the symptoms can be extremely varied: Muscle atrophy is one of them.

Therapy

Muscle atrophy affects the whole body and its functions. Patients with muscle wasting therefore require comprehensive therapeutic care for all areas of life. A cure is only possible for muscle atrophy due to inactivity. Otherwise, only the symptoms can be alleviated.

The aim of treatment is to improve quality of life and life expectancy. The patient's independence should also be increased. The following therapies and methods are used:

  • Physiotherapy with special exercises for strengthening and mobility
  • Occupational therapy for training everyday activities (ATL/ADL)
  • electrotherapy
  • Massages and baths
  • Ultrasound therapy
  • Speech therapy (speech training) and swallowing therapy
  • Support measures for respiratory and cardiac functions, such as respiratory support
  • Early treatment of infections and complications
  • Operations such as tendon shortening or spinal surgery
  • Provision of aids for walking and standing (e.g. a rollator) or a wheelchair
  • Psychological care and socio-medical support, including for relatives
  • Drug treatment for the underlying disease (e.g. steroids for Duchenne muscular dystrophy or Riluzole for ALS)

Enzyme replacement therapy helps some patients, for example in the case of glycogen storage disease Pompe disease. Enzyme replacement therapy is a treatment with special proteins that some patients lack in their bodies. Enzyme replacement therapy is a procedure that is similar in principle to diabetes treatment. It usually replaces the missing metabolic building block for life.

There have also been initial successes in the laboratory in the field of gene therapy. In spinal muscular atrophy, for example, the defective genes can be replaced with functioning genes. The body can then produce the missing proteins again.

Doctors have high hopes that rare, hereditary neuromuscular diseases can be treated in the future using gene therapy methods.

Prognosis

The prognosis depends on the causes of the muscle atrophy. However, if the disease is caused by a genetic disorder, muscle wasting is considered irreversible and incurable.

The respective form of the muscle or neurological disease determines the course and life expectancy of those affected. Some cases progress so slowly that life expectancy and quality of life are hardly affected. In unfavorable cases, muscle function declines rapidly. Those affected usually die in young adulthood, sometimes even in infancy.

However, the reduction in muscle mass can also be a result of inactivity. This is why mobilization and mobility are important support measures for senior citizens and bedridden people.

References

  • aerzteblatt.de (2017) Duchenne: Steroide verlangsamen Muskelschwund. Ärzteblatt vom 27. November 2017
  • Deutsche Gesellschaft für Muskelkranke e.V. Spinale Muskelatrophie (SMA). Diagnosestellung und Behandlung bei SMA Patienten. TREAT-NMD, München
  • Deutsche Gesellschaft für Neurologie (2015) Amyotrophe Lateralsklerose (Motoneuronerkrankung). AWMF-Registernummer:030/001
  • Grisold W (2018) Gentherapien sind für seltene, erblich bedingte neuromuskuläre Erkrankungen die große Zukunftshoffnung. Pressemitteilung zum International Congress on Neuromuscular Diseases, https://www.pressetext.com/news/20180706024
  • Muskeldystrophie-Netzwerk e.V. (MD-NET) (2010) Diagnose und Behandlung der Muskeldystrophie Duchenne. Ratgeber für Familien. München
  • Orphanet (2009, 2011) Artikel: Muskeldystrophie Typ Duchenne. Muskeldystrophie Typ Becker. Spinale Muskelatrophie, proximale, Typ 1. Spinale Muskelatrophie, proximale, Typ 3. Amyotrophe Lateralsklerose. Orphanet - Das Portal für seltene Krankheiten und Orphan Drugs
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