Muscular Dystrophy

July 9, 2019

Definition – Muscular dystrophies are group of genetic disorders characterised by progressive weakness and degeneration of skeletal muscles that control movement.

  • Syn : Myodystrophy , Myodystrophia
  • The disorders differ in terms of distribution and extent of muscle weakness, age of onset, rate of progression, and pattern of inheritance. Like other diseases, there is a whole spectrum of possibilities, as each case is different.
  • Muscular dystrophy may affect up to 1 in every 5,000
  • The condition is caused by genetic mutationsthat interfere with the production of muscle proteins necessary to build and maintain healthy muscles.
  • The disease is genetic, and consequently, a history of muscular dystrophy in the family increases the chance of an individual developing the disease.

Types – There are a number of muscular dystrophy types, including the following:

  • Duchenne muscular dystrophy-The most common form of the illness. Symptoms normally start before a child’s third birthday; they are generally wheelchair-bound by 12 and die of respiratory failure by their early-to-mid-twenties.
  • Becker muscular dystrophy– Similar symptoms to Duchenne but with a later onset and slower progression; death usually occurs in the mid-forties.
  • Myotonic (Steinert’s disease)– The myotonic form is the most common adult-onset form. It is characterized by an inability to relax a muscle once it has contracted. The muscles of the face and neck are often affected first. Symptoms also include cataracts, sleepiness, and arrhythmia.
  • Congenital– This type can be obvious from birth or before the age of 2. It affects girls and boys. Some forms progress slowly whereas others can move swiftly and cause significant impairment.
  • Facio scapula humeral (FSHD)– Onset can be at almost any age but is most commonly seen during teenage years. The muscular weakness often begins in the face and shoulders. People with FSHD may sleep with their eyes slightly open and have trouble fully closing their eyelids. When an individual with FSHD raises their arms, their shoulder blades protrude like wings.
  • Limb-girdle-This variant begins in childhood or teenage years and first effects the shoulder and hip muscles. Individuals with the limb-girdle muscular dystrophy might have trouble raising the front part of the foot, making tripping a common problem.
  • Occulo pharyngeal muscular dystrophy– Onset is between the ages of 40 and 70. Eyelids, throat, and face are first affected, followed by the shoulder and pelvis.

Causes of  muscular  dystrophy

  • Muscular dystrophy is caused by mutations on the X chromosome. Each version of muscular dystrophy is due to a different set of mutations, but all prevent the body from producing dystrophin. Dystrophin is a protein essential for building and repairing muscles.
  • Duchenne muscular dystrophy is caused by specific mutations in the gene that encodes the cytoskeletal protein Dystrophin makes up just 0.002 percent of the total proteins in striated muscle, but it is an essential molecule for the general functioning of muscles.
  • Dystrophin is part of an incredibly complex group of proteins that allow muscles to work correctly. The protein helps anchor various components within muscle cells together and links them all to the sarcolemma – the outer membrane.
  • If dystrophin is absent or deformed, this process does not work correctly, and disruptions occur in the outer membrane. This weakens the muscles and can also actively damage the muscle cells themselves.
  • In Duchenne muscular dystrophy, dystrophin is almost totally absent; the less dystrophin that is produced, the worse the symptoms and etiology of the disease. In Becker muscular dystrophy, there is a reduction in the amount or size of the dystrophin protein.
  • The gene coding for dystrophin is the largest known gene in humans. More than 1,000 mutations in this gene have been identified in Duchenne and Becker muscular dystrophy.

Duchenne muscular dystrophy

Below are the symptoms of Duchenne muscular dystrophy, the most common form of the disease. The symptoms of Becker muscular dystrophy are similar but tend start in the mid-twenties or later, are milder, and progress more slowly.


Initial symptoms

  • A waddling gait
  • Pain and stiffness in the muscles
  • Difficulty with running and jumping
  • Walking on toes
  • Difficulty sitting up or standing
  • Learning disabilities, such as developing speech later than usual
  • Frequent fall

Later symptoms

  • Inability to walk
  • A shortening of muscles and tendons, further limiting movement.
  • Breathing problems can become so severe that assisted breathing is necessary.
  • Curvature of the spine can be caused if muscles are not strong enough to support its structure.
  • The muscles of the heart can be weakened, leading to cardiac problems.
  • Difficulty swallowing – this can cause aspiration pneumonia, and a feeding tube is sometimes necessary

Sign –

Complications –

  • Cardiomyopathy
  • Decreased self independence and mobility
  • Lung failure
  • Muscle tightness around joints
  • Mental impairment

Diagnosing muscular dystrophy

A careful review of family history of muscle disease can help the doctors reach a diagnosis. In addition to medical review and physical examination doctor may rely on variety of techniques used to definitively diagnose MD.

  • Blood test – Enzyme assay– Damaged muscles produce creatine kinase (CK). Elevated levels of CK in the blood suggest a muscle disease.
  • Genetic testing-As genetic mutations are known to occur in muscular dystrophy, these changes can be screened for by examining blood samples.
  • Heart monitoring– Electrocardiography and echocardiograms can detect changes in the musculature of the heart. This is especially useful for the diagnosis of myotonic muscular dystrophy.
  • Lung monitoring– Checking lung function can give additional evidence.
  • Electromyography–A thin needle is inserted through skin into muscle to be tested. Electrical activity is measured when relaxing and gently tighten the muscle changes in the pattern of electrical activity can confirm a muscle disease. The distribution of disease can be determined by testing different muscles.
  • Muscle Biopsy– Removing a portion of muscle and examining it under a microscope can show the tell-tale signs of muscular dystrophy.

Treatment for muscular dystrophy

  • Currently, there is no cure for muscular dystrophy.
  • Medications and various therapies help slow the progression of the disease and keep the patient mobile for the longest possible time.

Physical therapy

  • General exercises – a range of motion and stretching exercises can help delaying the progression of contracture and combat the inevitable inward movement of the limbs as muscles and tendonsshorten.
    Limbs tend to become fixed in position, and these types of activities can help keep them mobile for longer. Standard low-impact aerobic exercises such as walking and swimming can also help slow the disease’s progression.
  • Breathing assistance – as the muscles used for breathing become weaker, it may be necessary to use devices to help improve oxygen delivery through the night. In the most severe cases, a patient may need to use a ventilator to breathe on their behalf.
  • Mobility aids – canes, wheelchairs, and walkers can help maintain mobility and independence.
  • Braces – these keep muscles and tendons stretched and help slow their shortening. They also give added support to the user when moving.
  • Hot bath – Hydrotherapy can also help in maintaining range of motion in joints.

the two most commonly prescribed drugs for muscular dystrophy are:

  • Corticosteroids– although this type of medication can help increase muscle strength and slow progression, their long-term use can weaken bone and increase weight gain.
  • Heart medications– if the muscular dystrophy impacts the heart beta blockers and angiotensin-converting enzyme (ACE) inhibitors may be useful.
  • Because respiratory infections may become a problem in later stages of muscular dystrophy, it’s important to be vaccinated for pneumonia and to keep up-to-date with influenza shots.


  • To release the contractures that may develop and that can position joints in painful ways, doctors can perform a tendon release surgery. This may be done to receive tendons of hip and knee etc.
  • To correct the curvature of spine.

Coping skills

  • The disease presents challenges in classroom, at home, and at all aspects of life. So the child need to be supported by family, friends, teachers and health care professionals.
  • In dealing with such disease support group can be valuable. Support groups provide a setting in which people can share their common problems and provide ongoing support to one another.

Current  research on muscular dystrophy

A great deal is known about the mechanisms of muscular dystrophy, both muscular and genetic, and although a full cure may be some distance away, there are avenues of research that draw ever closer to one.

Gene replacement therapy
Because the specific gene involved in muscular dystrophy has been found, a replacement gene that could create the missing dystrophin protein is a sensible consideration.
There are complicated problems with this approach, including the potential of the immune system to repel a new protein and the large size of the dystrophin gene needing to be replaced. There are also difficulties in targeting viral vectors directly to the skeletal muscle.
Another approach targets utrophin production. Utrophin is a protein similar to dystrophin that is not affected by muscular dystrophy. If utrophin production could be upregulated, the disease might be halted or slowed.

Altering protein production
If the dystrophin gene is being read by protein synthesis machinery and it reaches a mutation, it stops and does not complete the protein. Drugs are being trailed that cause the protein-making equipment to skip the mutated content and still continue to create dystrophin.

Drugs to delay muscle wasting
Rather than target the genes behind muscular dystrophy, some researchers are attempting to slow the inevitable muscle wasting.
Muscles, in standard circumstances, can repair themselves. Research into controlling or increasing these repairs could show some benefits for people with muscular dystrophy.

Stem cell research
Researchers are looking at the possibility of inserting muscle stem cells capable of producing the lacking dystrophin protein.
Current projects are looking at the most useful type of cells to use and ways in which they could be delivered to skeletal muscle.

Ayurveda for Muscular dystrophy

Specific yoga practice

  • Suryanamaskara
  • Sarvangaasana
  • Halasana
  • Bhujangaasana
  • Shavaasana
  • Pranayama

Specific formulation to increase muscle strength

  • Chandan, vacha, laakshaditaila for Abhyanga
  • Consume dates with hot milk
  • Shilajatu (as it affects every organ) with milk
  • Rasayanaprash ( containing-Ashwagandha, Shatavari, haritaki, vasa, Dashmool) with milk
  • Vilasanivallabha rasa
  • Ayurveda believes that mamsa dhatu is formed after activity of raktadhatuagni on rakta. So, here this thing should be kept in mind before suggesting medication. As the viciation of agni may further aggravate the problem. Masha (lentils), Mamsa (meat), Ashwagandha, Shatavari, Musali, Mulrthi, Kronch, and Balaadighrita can be used for the purpose.
  • Daily gentle oil massage over the body to gain muscle strength.

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