Myopathy
- As a result, their weakness develops, movement is disrupted, reflexes decrease.
- In some cases, muscle atrophy may develop.
The first symptoms usually appear in childhood. The key one is progressive muscle weakness.
What is the peculiarity of these diseases?
- marked decrease in muscle strength
- a definite sign of muscle damage
- possible involvement of the respiratory muscles
- characteristic laboratory and instrumental changes
It is important to know: muscle weakness does not equal fatigue.
Fatigue:
- appears after physical or emotional stress
- decreases after rest
- It is not accompanied by an objective decrease in muscle strength
- does not lead to progressive movement restrictions
And muscle weakness is determined by a doctor during examination using a special MRC system.
Classification of myopathies. They come in two types.
Genetic forms:
- muscular dystrophy
- congenital myopathies
- metabolic myopathies
- a separate group of muscle diseases - myotonia and periodic paralysis
Acquired forms:
- inflammatory (autoimmune) myopathies
- endocrine
- toxic and medicinal
- metabolic
In a number of hereditary diseases, pathogenetic methods of treatment have appeared in recent years, including enzyme replacement and targeted therapy.
However, the effectiveness of treatment largely depends on the timely diagnosis.
And for a significant part of acquired myopathies, special therapy regimens have been developed.
Diagnostics
Diagnosis of myopathies requires a step-by-step approach and is carried out at the Center for Neuromuscular Pathology MCSC. Survey opportunities include:
- expert neurological examination with assessment of neuromuscular status
- evaluation of laboratory markers of muscle damage
- needle electromyography
- MRI of muscles
- advanced metabolic diagnostics
- molecular genetic testing
- if necessary — morphological examination of the muscle
Treatment
Management tactics depend on the established diagnosis and may include:
- immunosuppressive therapy for inflammatory forms
- correction of endocrine disorders
- cancellation of causally significant drugs
- enzyme replacement therapy for certain metabolic diseases
- targeted drugs for some genetic myopathies
- specialized rehabilitation and respiratory support
Today, the treatment of myasthenia gravis and other neuromuscular diseases is focused on a personalized approach based on accurate diagnosis.
You can make an appointment for a consultation and research by calling the Unified Contact Center: +7 (495) 304-30-39 at the Center for Neuromuscular Pathology MCSC.
