Muscular Dystrophy

Muscular dystrophy is a group of disorders recognized by progressive muscle weakness and loss of muscle tissue. This disease weakens the muscles that move the human body. Muscular dystrophies are characterized by progressive skeletal muscle weakness, defects in muscle proteins, and the death of muscle cells and ti ssue. Nine diseases including Duchenne, Becker, limb girdle, congenital, facioscapulohumeral, myotonic, oculopharyngeal, distal, and Emery-Dreifuss have always been classified as muscular dystrophy but there are more than 100 diseases in total with similarities to muscular dystrophy. Most types of muscular dystrophy result in multi -system disorders including the heart, gastrointestinal and nervous systems, endocrine glands, skin, eyes and other organs, mainly the brain. The condition may also lead to mood swings and learning difficulties.

Symptoms vary with the different types of muscular dystrophy. Certain types, such as Duchnne dystrophy is ultimately fatal while other types have associated muscle weakness but cause little disability. Some types of muscular dystrophy can affect the heart, causing cardiomyopathy or arrhythmias. It is likely that few or one of these symptoms may be present before diagnosis-

  • Intellectual retardati on – only present in some types of Muscular Dystrophy
  • Hypotonia
  • Skeletal deformiti es
  • Muscle weakness
  • Progressive
  • Frequent falls
  • Delayed development of muscle skills
  • Problems walking
  • Difficulty using a muscle group (specific muscle depends on the type of MD)
  • Eyelid drooping/li>
  • Drooling
  • Muscle deformities
  • Contracture deformiti es (clubfoot, lawhand or others)
  • Scoliosis
  • Enlargement of the calve muscles (pseudohypertrophy)

The exact causes of this disease are still unknown. It is believed that these conditions are inherited and the different types of muscular dystrophies follow different inheritance patterns. If it is to be believed that it is inherited then, the symptoms of the disease should be prevalent from the birth itself, because the cellular division/multiplication is in accordance with the DNA mapping of each cell. This disease is also known as neuro muscular disorder. The disease is mainly due to the dysfunction of the neurological system associated with muscle tissue. It appears that the muscular dystrophy is purely a nervous dysfunction, where in the energy consumption of the muscle tissue/cells is higher than the energy produced by the muscle/cell. The enhanced energy consumption is mainly due to the changes in the functional signal being sent to the muscles/cells from the brain.

The diagnosis of muscular dystrophy is based on the results of a muscle biopsy and increased Creatine
Phosphokinase (CpK3). In some cases, a DNA (blood) test may be all that is needed.

Diagnosis is also made through an EMG (Electromyogram)- a test in which the electrical activity in muscle is analyzed aft er being amplified, displayed, and recorded. A physical examination and the patient’s medical history helps the doctor to determine the type of muscular dystrophy. Specific muscle groups are affected by different types of muscular dystrophy. Oft en, there is a loss of muscle mass (wasting), which may be hard to see because some types of muscular dystrophy cause a build up of fat and connective tissue that makes the muscle appear larger. This is called pseudo-hypertrophy.

Presently there is no known cure for muscular dystrophy. Inactivity (such as bed rest and even sitting for long periods) can worsen the disease. Physical therapy, occupational therapy, orthotic intervention (e.g., anklefoot orthosis), speech therapy and orthopedic instruments (e.g. wheelchairs and standing frames) may be helpful.

There is no specific treatment for any of the forms of muscular dystrophy. Physical therapy to prevent contractures and maintain muscle tone, 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 pacemaker.

Occupational therapy assists the individual with MD in engaging in his/her activities of daily living (self-feeding, self-care activities, etc.) and leisure activities at the most independent level possible. This may be achieved with use of adaptive equipment or the use of energy conservation techniques. Occupational therapy may implement changes to a person’s environment, both at home or work, to increase the individual’s function and accessibility. Occupational therapists also address psychosocial changes and cognitive decline which may accompany MD, as well as provide support and education about the disease to the family and individual.

In the prevailing situation where no cure/treatment exists for MD, the Nutritional therapy has given a ray of hope to two individuals if not many. The detail of one of the case is elaborated in the succeeding paragraphs and the second case will follow in succeeding issues of this magazine. The Nutritional therapy has been designed in a manner to resolve the neurological dysfunction so as to provide the corrected signal as well as to ensure availability of additional nutritional ingredients to the muscle tissue/cells so as to generate higher energy in order to meet the existing demand and ensure proper upkeep and maintenance.

The Nutritional therapy works in three phases –

  1. First Phase – To check/arrest further development/ growth of the disease.
  2. Second Phase – Recovery Phase
  3. Third Phase – Maintenance Phase

It has been observed that the time required for the first phase may be anywhere from a week to a year. The second phase may take one to two years and the third phase is life long. The time period in each phase mainly depends upon the period a person has been suffering with the disease and the intensity of the disease.

The prognosis for people with muscular dystrophy varies according to the type and progression of the disorder. Some cases may be mild and progress very slowly over a normal lifespan, while others produce severe muscle weakness, functional disability, and loss of the ability to walk. Some children with muscular dystrophy die in infancy while others live into adulthood with only moderate disability. The muscles affected vary, but can be around the pelvis, shoulder, face or elsewhere. Muscular dystrophy can affect adults, but the more severe forms tend to occur in early childhood.

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