Muscular atrophy Pseudomyopathic

Pseudomyopathic muscular atrophy: understanding and treatment

Introduction:
Pseudomyopathic muscular atrophy, also known as atrophia musculorum pseudomyopathica, is a rare genetic disease that affects muscles and causes them to gradually degenerate. In this article, we will look at the main aspects of this condition, including its causes, symptoms and treatment options.

Causes:
Pseudomyopathic muscular atrophy is of a genetic nature and is caused by mutations in certain genes. These genes control processes associated with the formation and functioning of muscles. Mutations can disrupt these processes, causing gradual muscle degeneration.

Symptoms:
The main symptoms of pseudomyopathic muscular atrophy are muscle weakness and loss of muscle mass. Patients may have difficulty performing everyday tasks such as walking, lifting objects, or maintaining correct posture. In addition, muscle cramps and pain may occur. Symptoms usually begin in early childhood or adolescence.

Diagnostics:
Diagnosis of pseudomyopathic muscular atrophy involves a comprehensive approach that includes a clinical examination, family history, muscle biopsy, and genetic testing. A muscle biopsy can assess the degree of degeneration and identify characteristic changes in muscle structure. Genetic tests are aimed at detecting specific mutations associated with this disease.

Treatment:
To date, there is no specific treatment for pseudomyopathic muscle atrophy based on its genetic nature. However, symptomatic therapy can be used to improve the quality of life of patients. This may include physical therapy, which helps maintain muscle strength and flexibility and relieve symptoms such as pain and cramps. In some cases, supportive devices such as orthoses or wheelchairs may be recommended to help with mobility.

Forecast:
Pseudomyopathic muscular atrophy is a progressive disease, and the prognosis depends on the severity and extent of symptoms in each patient. In some cases, it is possible to slow down the progression of the disease and improve the quality of life of patients through symptomatic therapy and regular monitoring of the condition.

Conclusion:
Pseudomyopathic muscular atrophy is a rare genetic disorder that causes muscle degeneration and is accompanied by weakness and loss of muscle mass. Diagnosis is based on clinical examination, family history, muscle biopsy and genetic tests. Although there is no specific treatment, symptomatic therapy and physical therapy can help improve patients' quality of life. It is important to regularly monitor the condition and provide support to patients and their families.

However, it should be noted that this article is not a substitute for consultation with a qualified healthcare professional. If you or a loved one suspects pseudomyopathic muscular atrophy or any other disease, it is recommended that you consult a doctor for professional medical advice and diagnosis.

Definition

Atrophic muscular dystrophy (muscle pseudomyopathy) or muscular atrophy itself is a genetically heterogeneous group of neuromuscular diseases characterized by predominant damage to poorly innervated and/or slow muscle fibers, leading to weakness, atrophy and ultimately a decrease in the functional activity of muscles. May also be called congenital non-progressive muscular dystrophy, congenital myopathy. The group of atrophic muscular dystrophies is also known as muscle collagenosis.

Landouzi-Dejerine disease was also previously included in this group, but was later identified as a separate type of dystrophy. At the moment, neither Landouzy-Dejerine syndrome nor atrophic muscular dystrophy is officially recognized in Russia, but is regarded as a separate neurological syndrome.

The appearance of characteristic external signs of the disease (pathological masticatory muscles in the form of teardrop-shaped muscle compaction and atrophy of surrounding muscles) usually occurs in childhood and adolescence and is sometimes delayed until adulthood. About 30% of patients develop symptoms decades or later in life. Death in most cases occurs in adulthood due to the development of respiratory failure or persistent paralysis of the limbs. Most cases of the disease are characterized by an asymptomatic onset, which complicates diagnosis.