Myopathy Congenital Non-progressive

Congenital non-progressive myopathy (M. congenita non progressiva) is a rare hereditary disease characterized by weakness of skeletal muscles and muscle wasting (reduction in volume) with their preservation as a whole. This disease belongs to a group of myopathies that are characterized by muscle damage.

M. congenita non progressiva is a genetic disorder that is inherited from parents. It can manifest itself in a variety of ways, depending on the type of inheritance and specific genetic mutations.

The main symptoms of congenital non-progressive myopathy are muscle weakness, especially in the lower extremities, and muscle wasting. Patients may also experience drooping of the upper eyelid (ptosis), scoliosis, limited joint movement, difficulty breathing, and trouble swallowing.

Diagnosis of congenital non-progressive myopathy is based on examination of the patient, including analysis of family history, physical examination and electromyography (electrodiagnostics of muscles). Genetic testing may also be performed to identify the presence of genetic mutations responsible for the disease.

Treatment of congenital non-progressive myopathy is aimed at symptomatic improvement of the patient's condition. For example, physical therapy and exercise can help strengthen weakened muscles and improve joint mobility and flexibility. Maintenance therapy may also be prescribed to improve breathing and ease swallowing problems.

Congenital non-progressive myopathy is a rare disease that can significantly limit the patient's quality of life. However, modern diagnostic and treatment methods can improve the condition of patients and reduce symptoms. It is important that the diagnosis and treatment of this disease is carried out by specialists in the field of neurology or rheumatology.

Congenital non-progressive myopathy (CPNP) is a dystrophy of the neuromuscular system of unknown origin. Mildly expressed impaired muscle tension is a decrease in muscle tone due to a violation of neurohumoral regulation. BF (BFN – Bioelectric formal - genetic nerve - muscular dysostosis (NMDE)). MVNP is common among newborns and children of the first year of life. The high frequency of MVNP is genetically determined: this disease often develops in children with a hereditary predisposition. In most cases, MVNP does not progress or progresses very slowly, almost imperceptibly, without clinical manifestations and specific examination methods, and the child requires observation by a neurologist. Without a diagnosis, this disease puts the child in a codependent position, dooming him to disability. Unfortunately, the diagnosis of MVNP can only be established in adolescence or adulthood, when complications of the disease can already develop. MBN is not a known genetic syndrome, meaning it is possible to have the condition regardless of the presence of other myopathies or familial mental illness. May be diagnosed along with other genetic syndromes such as 20q13.32 syndrome.