Pseudohypertrophy is muscle enlargement due to vacate proliferation associated with functional loss. Most pseudohypertrophies present in the context of superordinate muscular diseases. Therapy is primarily equivalent to exercise therapy to restore full mobility.
What is pseudohypertrophy?
The disease group of muscle hypertrophies includes diseases characterized by a pathological increase in muscle tissue after overload. A similar phenomenon is present in pseudohypertrophy. This is the enlargement of a skeletal muscle that is macroscopically visible. At the same time as the enlargement, there is functional loss. The patient thus loses strength in the affected muscle. The distinction from muscle hypertrophy is a histological one. In pseudohypertrophy, the interstitial connective tissue increases. This is the connective tissue between the parenchymal cells of the muscles. In hypertrophy, the connective tissue does not increase, but the parenchymal cells increase in size, causing the organ enlargement. Also, the causes of hypertrophy and pseudohypertrophy are not the same. Ultimately, pseudohypertrophy is often causally preceded by muscle hypertrophy, for example. In this case, pseudohypertrophy is a symptom of hypertrophy. The combination of pseudohypertrophy and hypertrophy mainly characterizes some groups of genetic diseases.
Causes
The cause of enlarged muscle in pseudohypertrophy is vacate proliferation. This is the proliferation of connective tissue or adipose tissue that occurs in a vacated space of the human body. Accordingly, vacant proliferations are adaptation reactions of human cells and tissues. The space for the growths is usually vacated in the course of atrophy. This preceding muscle atrophy can take place in the context of neuromuscular diseases. Thus, the primary cause of pseudohypertrophies is often a primary disease such as Duchenne muscular dystrophy with predilection site in the calf muscles. When a primary disease such as Duchenne muscular atrophy causes the pseudohypertrophy, genetic factors usually play a role. For example, the atrophy in this disease is caused by a mutation in the dystrophin gene. Pseudohypertrophy based on genetic mutations can also occur in the context of limb-girdle dystrophies. The same applies to primary diseases with a neurologically induced alteration of the muscle tissue. In short, the primary cause of pseudohypertrophy ever corresponds to the primary cause of primary diseases.
Symptoms, complaints, and signs
Patients of pseudohypertrophy suffer from an increase in muscle volume that results from adipose tissue storage or occurs as part of connective tissue remodeling within the muscles. This phenomenon leads to functional loss of the affected muscle. Since, unlike hypertrophy, muscle cells do not enlarge, pseudohypertrophy is accompanied by muscle weakness in most cases. Patients may suffer from gait problems due to muscle weakness, for example, depending on the location of the pseudohypertrophy. When muscles of the upper extremities are affected by pseudohypertrophy, these conditions often also manifest as an inability to maintain a firm grip or general clumsiness. Depending on the primary disease, other symptoms may be present. Pseudohypertrophy in Becker-Kiener type or Duchenne type muscular dystrophies is usually located in the calves and symptomatically causes so-called gnome calves. In myotilinopathies such as LGMD1A limb-girdle dystrophies, speech disorders may be present as concomitant symptoms. Pseudohypertrophies in the myocardium are usually due to cardiomyopathies. These pseudohypertrophies are usually preceded by myocardial infarction.
Diagnosis and course of the disease
To diagnose pseudohypertrophy, the physician first performs imaging procedures. These procedures primarily include computed tomography, magnetic resonance imaging, and ultrasound. To rule out neurological factors as the cause of muscle weakness, MRI is usually the most helpful tool. Pseudohypertrophy must be distinguished from true hypertrophy in the diagnostic process.This differential diagnostic differentiation is usually made by means of microscopic examinations of muscle tissue taken in a muscle biopsy. Since hypertrophies and pseudohypertrophies are associated with the proliferation of different types of tissue, the differentiation of the two phenomena can be made by histology following the biopsy. In most cases, the physician also strives to clarify the primary cause during the diagnostic process. Genetically determined primary diseases can be confirmed or excluded, for example, within the framework of molecular genetic analyses.
Complications
As a result of pseudohypertrophy, affected individuals suffer from a significant increase in muscle. However, this increase has a very negative effect on the patient’s daily life and also on movement, and in the process can lead to restricted movement or gait disorders. Muscle weakness is also not uncommon due to pseudohypertrophy and makes everyday life considerably more difficult for the affected person. Pseudohypertrophy also affects the face, which can lead to speech disorders. The development of children is significantly limited and negatively affected by this disease. Likewise, pseudohypertrophy can have a negative effect on the heart of the affected person, so that in the worst case a heart attack can occur. Unfortunately, there is no causal treatment for this disease. For this reason, treatment of pseudohypertrophy is primarily aimed at reducing muscle weakness. In some cases, however, those affected are dependent on the help of other people in their daily lives. Psychological treatment is also necessary in many cases. Whether pseudohypertrophy results in a reduction in life expectancy cannot be universally predicted.
When should you see a doctor?
Declines in physical performance should be presented to a physician. If overall muscle strength decreases, a follow-up visit is recommended so that the cause can be determined and a treatment plan can be developed. If there are restrictions in movement, disturbances in locomotion, or if accustomed sporting activities can no longer be performed, a physician should be consulted. In case of gait unsteadiness, swellings on the body or untraceable growths, a doctor is needed. Fatty tissue deposits, deformities or changes in the muscles should be examined. If the individual gains weight or girth for no explainable reason, there is cause for concern. A visit to the physician is required, as pseudohypertrophy has a progressive course if left untreated. Disturbances in speech should be understood as an alarm signal from the organism. They should be examined and clarified as soon as possible. General malaise, a feeling of illness or internal weakness should be presented to a physician. If objects of everyday use can no longer be held or the hand cannot form a firm grip, a visit to the doctor should be made. Irregularities of the heart rhythm, palpitations or changes in blood pressure are indications of a health impairment. Since there is a risk of a heart attack and thus a health emergency, a doctor should be consulted immediately. If sleep disturbances or rapid fatigue occur, a doctor’s visit is also required.
Treatment and therapy
In most cases, no causal therapies are available to treat pseudohypertrophy. This is especially true when the phenomenon occurs in the context of genetic mutations. Gene therapies are currently not a therapeutic option and remain a subject of medical research for the time being. Pseudohypertrophy can only be treated symptomatically in the context of these diseases. The goal of this treatment is primarily a reduction of muscle weakness. The improvement and preservation of independence and mobility is to ensure permanent self-sufficiency and the ability to participate in social life. Usually, treatment for this purpose is provided by an interdisciplinary team consisting of nurses, physiotherapists, occupational therapists, psychologists and, if necessary, social workers. Rehabilitation of the muscles is promoted by exercise therapies with light to moderate exertion. Walking, swimming and cycling may be part of the program. Muscular endurance is thus improved and the efficiency of the cardiovascular system increases.For some primary conditions, drug therapy options are available in addition to exercise therapy.
Prevention
One preventive measure for pseudohypertrophy may be regular exercise. Prevention measures are not available for certain primary conditions with pseudohypertrophy, but the muscle weakness of pseudohypertrophy can be maintained at a moderate level with regular exercise.
Follow-up
Affected patients usually have few and also limited measures and options of aftercare available for pseudohypertrophy. For this reason, patients should seek medical attention at the first symptoms and signs of the disease to prevent further complications. As a rule, the disease cannot heal on its own, which is why those affected are always dependent on medical examination and treatment. The earlier a doctor is consulted, the better the further course of the disease usually is. In most cases, treatment is carried out with the help of various surgical interventions, through which the tumors can be removed. After such an operation, patients should rest and take care of their body. Physical exertion and stressful activities should be avoided. Regular checks by a doctor are also essential. This can prevent infections and inflammations. In many cases, pseudohypertrophy limits and reduces the patient’s life expectancy. Further measures of a follow-up are usually not available to the patient in this case.
Here’s what you can do yourself
Those suffering from pseudohypertrophy are usually prescribed exercise therapy. It is quite important to keep these therapy appointments, because with targeted exercise, the weakened muscle areas are strengthened again. With consistent adherence to therapy, there is a good chance of regaining full strength, mobility and range of motion of the affected muscles. If speech disorders are present due to the disease, the same applies to the prescribed logopedic treatment. Of course, the prescribed medication should also be taken consistently according to the doctor’s instructions. The fact that the disease can usually only be treated symptomatically is usually a great burden to those affected. In this case, accompanying psychotherapy is advisable. This is especially true for patients who are dependent on the help of others. Sporting activity in everyday life over and above the prescribed therapies also pays off. Patients should run, walk, swim and/or cycle a lot. Regular exercise promotes the cardiovascular system as well as muscular endurance. However, regular tension should be followed by regular relaxation. Many patients suffering from pseudohypertrophy tend to withdraw socially. This should be actively prevented, for example with periodic get-togethers with friends. It also makes sense to join self-help groups. The DGM Deutsche Gesellschaft für Muskelkranke e.V. (German Society for Muscular Dystrophy) provides appropriate contacts and further information. (www.dgm.org).
