Neuro-muscular Disability due to Dystrophy

Muscles allow us to move, stand, and perform the range of movements needed for daily living. Each muscle is made up of fibers. Muscles are attached to bones via specially adapted parts of the muscle, called tendons. Muscle and tendons are normally very flexible, allowing movement through lengthening and shortening.

Stressful abnormal mental activity of the parents and a wrong  eating habit in a toxic polluted environment is the main causes of more than 90 percent diseases which creates imbalances in the nerve impulses and affect genetic configuration.

Various structural and regulatory proteins are needed to maintain the integrity and proper function of the muscle. Proteins are made in the body through hereditary information in our genes.  Pathological mutations of the genes involved in synthesis and regulation of these proteins lead to disruption in the normal structure and function of the muscle tissue.

In muscular dystrophy, muscle fibres breakdown and are replaced by fibrous or fatty tissue causing the muscle to gradually weaken. Progressive muscle tissue damage causes loss of muscle bulk or replacement of normal muscle structure by fat or scar tissue. More than 30 genes have been identified to cause different types of muscular dystrophies.

Dystrophinopathies, which include Duchenne and Becker muscular dystrophies; Myotonic dystrophies; Facioscapulohumeral muscular dystrophy (FSHD); Limb-girdle muscular dystrophies; Oculopharyngeal muscular dystrophy; Congenital muscular dystrophies; Emery-Dreifuss muscular dystrophy : –

• Duchenne muscular dystrophy is the most common form affecting children. Myotonic dystrophy type 1 is the most common form affecting adults.
• MDs are categorized based on the culprit gene(s), inheritance pattern, clinical presentation and muscle biopsy features

Diagnosing muscular dystrophy: Variety of laboratory tests can be used to confirm the diagnosis. These tests may include:

Blood tests: When blood tests are performed to test for MD, the doctors are looking for an enzyme called creatine kinase (CK). Elevated CK level is noted when there is muscle damage and is a very helpful marker for MDs.

Electromyogram (EMG): EMG is a test that measures the muscle’s response to stimulation of its nerve supply (nerve conduction study) and examines the electrical activity of muscles (needle electrode examination). This test is very helpful in demonstrating that the weakness is due to a muscle disease rather than a nerve disease.

Muscle biopsy: During a muscle biopsy, a small piece of muscle tissue is removed, sent to a pathology lab for specific staining, and then examined under a microscope. If MD is present, changes in the structure of muscle cells and the findings on different immuno-histo-chemical staining can help with the diagnosis of MDs.

Genetic testing: Many muscular dystrophies can be definitively diagnosed by testing for the mutated genes. In many instances, this is the most specific test to diagnose MDs. If clinical features and family history point to specific types of MDs, neuromuscular specialists might directly go to genetic testing and skip muscle biopsy. This approach is common in diagnosing Dystrophinopathies (like Duchenne), Myotonic dystrophies, FSHD, OPMD, several forms of limb-girdle MDs, Emery-Dreifuss, and identifying carriers of X-linked MDs.

Chromosomal microarray (CMA) : testing looks for extra (duplicated) or missing (deleted) chromosomal segments.  These include: Micro deletions and micro duplications of chromosome segments, which are too small to see under a microscope, but may contain multiple genes. Chromosome Microarray blood tests are now routinely ordered to assist in the diagnosis of any individual with developmental delay, autism, and/or birth defects. Chromosome microarray (also called array CGH), is a genetic test that scans the individual’s chromosomes looking for small pieces that are missing (deletions) or extra (duplications).

Treating muscular dystrophy : There is currently no cure for muscular dystrophy but there are several treatments available for improving the life expectancy and quality of life of patients with MD. Steroids and gene therapy have now become standard of care and are aimed to slow down the progression of disease. Treatment is aimed at preventing complications caused by:

Physical therapy: especially regular stretching, is important in helping to maintain range of motion for affected muscles and to prevent or delay development of contractures. Strengthening other muscles to compensate for weakness in affected muscles may be of benefit also, especially in earlier stages of milder MD.

Occupational therapy : involves employing methods and tools to compensate for a patient’s loss of strength and mobility. This may include modifications at home, dressing aids, wheelchair accessories, and communication aids.

Surgery: If a patient’s contractures have become very pronounced, surgery may be used to relieve the tension by cutting the tendon of the affected muscle, then bracing it in a normal resting position while it heals. Surgery for scoliosis is often needed for patients with Duchenne or similar MDs.

Nutrition: Nutrition has not been shown to treat any conditioning MDs. Healthy diet is important in Duchenne patients who are on steroids as steroid-induced metabolic changes could compromise patient’s mobility and independence. Malnutrition in patients with swallowing difficulty or fatigue also needs to be addressed and alternative methods of feeding explored.

Cardiac care: Dysarrythmias or heart failure (cardiomyopathy) are a complication in Dystrophinopathies (Duchenne and Becker), Myotonic dystrophies, Emery-Dreifuss, and some limb-girdle MDs. Placement of cardiac pacemakers and/or different therapies for cardiomyopathy is sometimes needed in these diseases.

Respiratory care: When the muscles of the diaphragm and other respiratory muscles become very weak, a patient may require a ventilator device to continue breathing deeply enough. Air may also be administered through a tube or mouthpiece. It is therefore very important to maintain healthy lungs to reduce the risk of respiratory complications. Cough-assist devices might also be required to help clear respiratory secretions and prevent infections.

Like many other disorders, understanding and education about muscular dystrophy is the most important tool with which to manage and prevent complications. The following organizations can provide more information about muscular dystrophy:

Mamsagni Rasayana: This Rasayana molecule is now bringing a long term wellness to Duchenne boys. The active ingredients viz; boswellic acid, withanoloids and Curcumin act as neuro-muscular protective agents.  These are efficient to stop further deterioration of muscles due to inflammatory response and oxidative damages to DNA. It inhibits nitric oxide production via suppression of inducible nitric oxide synthase (iNOS) mRNA expression and thus reduces inflammation and further damage to muscle fibre.  The medicine blocks nuclear k-factor and will help delay the muscle degeneration. Rasayana medicines do not alter the patient’s genetic code or introduce genetic materials into the body. These safe and natural medicines are developed and being clinically used by AMDS India for Care through Ayurveda research project since 1995.  Rasayana treatment gives better results if used along with TMP* Ayurveda therapy and physiotherapy.

https://www.youtube.com/watch?v=2PetWYLWG5o&feature=youtu.be ;

Questions & Comments to Mukesh D Jain  Contact

Project Coordinator, AMDS India,
6/5 Priyadarshini Parisar East,
Supela, Bhilai 490023 India Tel. +91-788-4060373,
drmukeshjain@ayush-samiti.co.in ,
http://ayush-samiti.co.in