Congenital Myopathies – causes, side effects and treatments at NaturalPedia.com

Wednesday, February 21, 2018 by

Congenital myopathy is the collective term for a group of muscular disorders that happen during birth or infancy. A characteristic of myopathy is that the disease will result in weakness; thus, an infant with the condition will be described as “floppy,” have difficulty breathing and feeding, and will not be able to catch up with normal milestones such as turning over or standing up.

There are a lot of reasons for a myopathy – this could be anywhere between a problem with the muscle, or the nerve connecting it, to even a problem with the brain. If a case of congenital myopathy is suspected, a neurologist will perform tests to determine the presence of an enzyme called creatine kinase, which is involved in muscle development.

There are seven types of congenital myopathy. These vary in symptoms, complications, treatment options, and outlook.

  • Nemaline myopathy is the most common congenital myopathy. An infant with this case will have difficulty breathing and feeding, and may have skeletal problems in the future such as scoliosis.
  • Myotubular myopathy is a rare condition that only affects boys. There are severe breathing and swallowing difficulties, and many children do not survive infancy. Additionally, osteopenia (weakening of the bones) is also linked with this disorder.
  • Centronuclear myopathy is also rare, and it begins in infancy or early childhood. This is characterized by a  weakening of the arms and legs, droopy eyelids, and problems with eye movements. The condition progresses over time.
  • Central core disease has varied symptoms depending on its severity, as well as the degree of worsening over time. While there is mild floppiness during infancy, delayed milestones, and moderate limb weakness, these do not grow worse over time. However, children with the condition may have severe reactions to general anesthesia.
  • The multi-minicore disease also has different types; however, a common trait to most is a severe weakening of the limbs and scoliosis, together with breathing difficulties.
  • Congenital fiber-type disproportion myopathy is a rare condition that starts with floppiness, then progresses to limb and facial weakness, and breathing problems.
  • Hyaline body myopathy is a disorder that is known by its specific appearance under the microscope of a sample of muscle tissue. However, the symptoms also vary.

Known risk factors and symptoms of congenital myopathies

The condition is attributed to a mutation in the ryanodine receptor (RYR1), and while specific symptoms vary for each type of congenital myopathy, general signs and symptoms include the following.

  • A non-progressive limb weakness, facial weakness, and low muscle tone
  • Decrease movement during infancy and curving of joints
  • Skeletal abnormalities like hip dislocation and foot deformities

Severe cases will have a significant weakness in muscle toning, as well as difficulty in breathing.

Body systems affected by congenital myopathies

The condition affects the musculoskeletal system of an infant.

Food items or nutrients that may prevent or relieve congenital myopathies

People who have muscular dystrophy should avoid white bread, sugars, and pasta, according to a study made by the University of Maryland Medical Center. Additionally, here are some recommended food items to help with myopathies.

  • Proteins – These are needed by the body for muscle growth and repair. Eat more lean meat, preferably fish and beans.
  • Green tea – Aside from its antioxidant properties, green tea can help with neurological and cardiovascular health.

Treatment and management options for congenital myopathies

While there is no effective treatment for congenital myopathies, treatment procedures usually involve orthopedic procedures, as well as physical therapy.

Where to learn more

Summary

Congenital myopathy is the collective term for a group of muscular disorders that happen during birth or infancy. There are a lot of reasons for a myopathy – this could be anywhere between a problem with the muscle, or the nerve connecting it, to even a problem with the brain. If a case of congenital myopathy is suspected, a neurologist will perform tests to determine the presence of an enzyme called creatine kinase, which is involved in muscle development.

The condition affects the musculoskeletal system of an infant. While there is no effective treatment for congenital myopathies, treatment procedures usually involve orthopedic procedures, as well as physical therapy.

Sources include:

NINDS.NIH.gov

eMedicine.Medscape.com

LiveStrong.com



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