Diagnosis, Causes, Treatment of Muscle Dysfunction at different Regions of the body

Abstract

Description

Any congenital musculoskeletal condition known as congenital myopathy, characterized by weakness and lack of muscular tone, typically becomes apparent at birth. Muscle weakness and hypotonia are brought on by this abnormality, which mostly affects skeletal muscle fibres. Approximately 6 out of every 100,000 live infants are affected with congenital myopathies, one of the most common neuromuscular diseases today. One of the multiple genes undergoes a genetic change (mutation) leading to in congenital myopathy. The following categories can be used to classify congenital myopathies, a noticeable cellular discrepancy visible under a light microscope in the fibres of skeletal muscle, Muscle tremor and hypotonia is a congenital disorder, which means that its symptoms initially manifest at birth or quite early in life and that it evolves during development and also a genetic disorder. The list of disorders referred to as "Congenital Myopathy" can be diverse. Nemaline Myopathy, Myotubular myopathy, Central myopathy, Congenital fibre type disproportion, and Multicore myopathy are some examples of sources.

Causes 

Some congenital myopathies that fall within the wide category of congenital myopathies with inclusion bodies and protein residue, Muscle dysfunction is typically caused by the development error in this category, which happens when muscle proteins congregate and accumulate in the sarcoplasm.

Myopathies with Cores: The muscle fibres of "Core Myopathies" such multicore myopathy and central core disease know precisely regions from which the oxidative enzymes NADH, SDH and COX are deficient.

Myopathies with central nuclei: Myotubular myopathy is caused by a gene oversight that affects vesicle transport within the cell. This makes it difficult for vesicles carrying the cellular components required for myoblast fusion, a crucial step in the progression of skeletal muscle, to reach the plasma membrane. This leads to structural change in the Z line of the sarcomere and throughout the skeletal muscle, which results in the muscle weakness.

Myopathies with fiber size variation: Type 1 fibres, the slow-twitch fibres engaged in sustained activity, are smaller than type 2 fibres, the fast-twitch fibres involved in quick action, in a condition known as congenital fibre type disproportion. Smaller type 1 fibres have not received as much attention as some of the others since they are not connected to nemaline myopathy, the most prevalent form of congenital myopathy. Considering that patients typically may partake in activities for shorter periods of time but struggle with prolonged activity can be attributed by the smaller type 1 fibres.

Diagnosis

Except for muscle biopsy, there are very few specialized testing for congenital myopathies. Blood tests can be performed to measure creatine kinase, which is frequently normal or just modestly increased in congenital myopathies. To monitor a muscle's electrical activity, electromyography can be used. Muscle pathology, which visualizes a muscle sample at the cellular level, is extensively relied upon for diagnosis. This technique is typically used for diagnosis since electromyography and creatine kinase values can be imprecise. There have been improvements in prenatal testing due to the hereditary nature of congenital myopathies.

Treatment

All of the congenital myopathies are currently untreatable. Depending on the intensity, several therapies are available to help patients feel less pain and undertake a variety of activities. Treatments that aim at aiding the person with symptoms include physical, occupational, and speech therapy. Some congenital myopathies may benefit from gene therapy as a remedy. To improve their skeletal muscles, for instance, many congenital myopathy patients participate in physical or occupational therapy. Hence, Orthopaedic surgery is typically required to treat skeletal deformities like scoliosis that result from muscular weakness.