Home > Muscular dystrophy
The muscular dystrophies are a group of genetic and hereditary muscle diseases; characterized by progressive skeletal muscle weakness, defects in muscle proteins, and the death of muscle cells and tissue. In some forms of muscular dystrophy, cardiac and smooth muscles are affected. The muscular dystrophies are the most common hereditary diseases.1 Cause
The dystrophies are caused by mutations of genes involved in muscle structure, with the gene for the dystrophin protein being the most prominent one. The dystrophin gene is located on the X chromosome. Accordingly, muscular dystrophies are much more common in males, as females have two copies of that chromosome, males have only one.
2 Varieties and symptoms of muscular dystrophy
The major forms of muscular dystrophy include:
- myotonic muscular dystrophy
- Duchenne muscular dystrophy
- Becker's muscular dystrophyAlternative names Benign pseudohypertrophic muscular dystrophy Definition Becker's muscular dystrophy is an inherited disorder characterized by slowly progressive muscle weakness of the legs and pelvis. Causes, incidence, and risk factors Becker's muscula
- Limb-girdle muscular dystrophyLimb-girdle muscular distrophy or Erb's muscular dystrophy is a type of muscular dystrophy that includes Duchenne muscular dystrophy, Becker's muscular dystrophy, and a large number of rarer disorders. The term "limb-girdle" is used to describe these diso
- Facioscapulohumeral dystrophy
- congenital muscular dystrophy
- oculopharyngeal muscular dystrophyOculopharyngeal dystrophy (OPD), or oculopharyngeal muscular dystrophy is a form of muscular dystrophy characterized in some stages by deformation of the eyelid, speech impediment, and difficulty swallowing due to dystrophia of the pharynx. Diseases.
- distal muscular dystrophy
- Emery-Dreifuss muscular dystrophy
- severe childhood autosomal recessive muscular dystrophy.
Duchenne MD is the most common form of muscular dystrophy affecting children, and myotonic muscular dystrophy is the most common form affecting adults. Muscular dystrophy can affect people of all ages. Although some forms first become apparent in infancy or childhood, others may not appear until middle age or later.
The most frequent symptoms are muscle weakness (frequent falls, walking problems, eyelid drooping), skeletal and muscle deformities. Neurologic examination often reveals loss of muscle tissue (wasting), muscle contracture, pseudohypertrophy and weakness. Diagnosis is usually established by muscle biopsy, elevated serum CKCreatine kinase (CK), also known as phosphocreatine kinase or creatine phosphokinase (CPK) is an enzyme ( EC ) expressed by various tissue types. Its function is the catalysis of the conversion of creatine to phosphocreatine, consuming adenosine triphosph levels and electromyography examination, which is consistent with myogenic involvement. Some types of muscular dystrophy may present with additional cardiac disease, intellectual deterioration and infertility.
There is no known cure for muscular dystrophy. Inactivity (such as bedrest and even sitting for long periods) can worsen the disease. Physical therapy and orthopedic instruments (e.g. wheelchairA wheelchair is a device used for mobility by people for whom walking is difficult or impossible, due to illness or disability. It typically consists of a seat supported on two large wheels on an axle attached towards the back of the seat and two small whs) may be helpful.
3 Treatment
There is no specific treatment for any of the forms of muscular dystrophy. Physical therapy to prevent contractures (a condition in which shortened muscles around joints cause abnormal and sometimes painful positioning of the joints), orthoses (orthopedic appliances used for support) and corrective orthopedic surgery may be needed to improve the quality of life in some cases. The cardiac problems that occur with Emery-Dreifuss muscular dystrophy and myotonic muscular dystrophy may require a pacemakerA pacemaker (or artificial pacemaker , so as not to be confused with the heart's natural pacemaker) is a medical device designed to regulate the beating of the heart. The purpose of an artificial pacemaker is to stimulate the heart when either the heart's. The myotonia (delayed relaxation of a muscle after a strong contraction) occurring in myotonic muscular dystrophy may be treated with medications such as phenytoin or quinine.
