The word “dystrophy” was coined in the 1860s by a French physician named Guillaume Duchenne when he noticed that the muscles in some young boys were weakening and wasting away. He called it a “dystrophy,” after the Greek word roots, “dys-” meaning abnormal, diseased or faulty and “-trophy” which refers to nutrition or growth. Duchenne believed that dystrophy progressed as muscles continued to develop without the nutrients they needed. Muscular dystrophy is always a genetic disorder caused by gene defect called mutation.  This mutation may be inherited from a parent who also has it, even if it is not “expressed” (manifested). Such an inherited genetic flaw is called a “familial mutation.” All mutations begin somewhere, and it is possible that the mutation occurred long ago, in a previous generation. It is also possible that the mutation occurs only in the afflicted individual (or in the egg or sperm that created that person), in which case the new mutation is considered “spontaneous.”The term “muscular dystrophy” is considered by many to be misleading when it comes to DMD and BMD because technically, the muscles in boys with DMD do not lack any required nutrients. The problem actually stems from the absence of a critical muscle protein, called dystrophin. So DMD and BMD are best referred to as “myopathies” (from the Greek root “myo-” for muscle and “-pathos” for abnormal or diseased). Myopathies occur when the fault lies in the muscle itself rather than in some other tissue that controls, serves or attaches to the muscle.

Dystrophin: The cyto-skeleton of Muscle

Dystrophin’s main function is to serve as a “connector” in the cell’s structural support system (or cytoskeleton). Dystrophin anchors contractile muscle filaments to the membrane (surrounding surface) of a muscle cell. Each protein has a unique three-dimensional structure. Different portions of this structure enable the protein to fold over onto itself or to connect with other molecules. This allows the entire cell to shorten during muscle contraction, generating the forces needed to move the skeleton. When any of these connecting membrane proteins is faulty, two things happen. First, muscle cannot contract normally, which leads to weakness since less force can be generated. Second, as a muscle cell contracts, its delicate membrane tears, spilling the contents of the cell into the surrounding fluid.Not only do vital substances leak out of muscle fibers, but harmful substances (like calcium ions) pour in. As with any injury to the body, normal immune cells (or lymphocytes) arrive to mend or remove the damaged cells and debris. The injured muscle cells are “cleared away” and are replaced with hard, fibrous or rubbery scar tissue. This leads to “pseudo hypertrophy,” in which muscles (particularly of the calf) appear much larger than normal. Ironically, what appears to be a sign of strength is really a sign of weakness, as the increased mass consists not of strong muscle, but rather of useless scar tissue.

Diagnosis:

1. Blood Enzyme: The body creates an enzyme called “Creatine Kinase” that normally lives inside muscles. When muscles are functioning normally, CK levels in the bloodstream are relatively low. But when muscles are damaged, the muscle cells split open, causing their contents to spill out into the bloodstream. This creates a rise in the levels of CK in the blood. Measuring CK levels may verify that there has been muscle damage and may indicate more muscle damage to come.

2. Muscle Biopsy/DNA
Muscle biopsy is useful to determine the cause of the muscle damage and to determine what is happening inside the cells. This test is the most reliable way to diagnose Duchenne MD, and distinguish it from the other inflammatory disorders, and from other Muscular Dystrophies.

DNA testing (using blood cells or muscle cells) remains the best way to obtain exact genetic information leading to a conclusive Duchenne MD diagnosis. DNA testing is generally performed using a tool called a “PCR”, an acronym for “polymerase chain reaction”. Essentially this is a way to make large quantities of DNA from a small sample so that multiple tests can be performed. PCR uses the original DNA double helix to make copies of DNA, called cDNA. Symptoms of DMD

Progression of DMD

1. Early Phase (diagnosis through age 7)
It is during this early phase that the calves may seem overdeveloped. He may appear clumsy and fall a lot. Jumping from a standing position may become near impossible.

2. Transitional Phase (6-12 years)
Child will likely have trouble walking, mostly because his quadriceps (muscles in the front of the thighs) have grown weaker. This tends to keep him off balance as he attempts to shift his weight and walk. He may walk on the balls of his feet or on his toes with a slight, rolling gait. When asked to get up off of the floor, he will often put his rear end up in the air first and then “walk” his arms up his legs with his hands until he is standing; using his arms for supports. The medical term for this is “Gowers Maneuver.”

3. Loss of ambulation (8-14 years)
By about 12 years old, he will likely need a wheelchair for at least part of the time as mobility becomes more difficult. In most cases teen years are when the most significant loss of skeletal muscle strength takes place. It is at this point that activities involving the arms, legs, or trunk of the body will require assistance.

4. Adult Stage (15+ years)
During the teen years, heart complications become the main threat to both health and life due to damage and loss of respiratory muscle. The muscle layer of the heart (called “myocardium”) begins to deteriorate, much like the skeletal muscles do. This puts the boys at risk of a heart attack. Major symptoms of myocardium include shortness of breath, fluid in the lungs, or swelling in the feet and lower legs (caused by fluid retention).

Ayurvedic View: Ayurvedic experts carefully consider this condition as adibala-pravrit Mams-Vata-Kshaya due to srotorodha. There is depletion of Mamsagni paving the way of Ama formation. It is followed by vitiation of Kapha dosha. While srotorodha produces hypertrophy in particular region, it also manifests as first prokopa and then depletion of Vata element. This complex pathogenesis is responsible for progressive wasting and necrosis of the affected muscle fibers.

Ayurveda visualizes 13 major types of Agnis (enzyme complex) which are responsible for the process of metabolism. Each of seven dhatus has individual dhatvagnis. The increase or decrease of a particular dhatus depends upon the increase or decrease of respective dhatvagnis. According to Charak, Mamsa-Kshaya may be present when there is prolonged majjagata kupita Vata. This is always followed by depletion of Vata element. It is genetic predisposition (Beeja dosha) that convert physiological Vata element in to pathological morbidity. The Srotodusti is responsible for the Mamsa dhatu Kshaya.

The concept of Dosha-Dhatu-Mala (D.D.M) is unique in Ayurveda. The dhatus are those substances which are retained by the body and always rejuvenated or replenished. Ras-Rakta-Mamsa-Meda-Asthi-Majja and Sukra are seven dhatus which develops in human body in a fixed, sequential manner one from the other. Each succeeding dhatu is a metabolic refinement of the previous dhatu and get nourished by it. The first dhatu, Rasa (nutrient fluid) is the metabolic end product of the digestion that takes place within gastro-intestinal tract. The Rasa dhatu has to be metabolized in to Rakta dhatu. The Mamsa dhatu comes from Rakta dhatu and in turn, give rise to Meda dhatu. The Asthi dhatu is the product of Meda dhatupaka that contains Majja dhatu which is the prime seat of Vata element.

We know that Vata (Prana) and Rakta dhatu are two major life sustaining elements in the body. The Vata has been attributed like genetic material that carries life information essential for different activities. The Rakta dhatu is the basis of biological force that provides nutrition at cellular level and paves the way of excretion of metabolic toxins. The driving force beyond Rakta dhatu is Vata element which circulates itself to cellular level along with Rakta. The conjoint circulation of both Rakta and Vata is manifestation of life (Prana). This Prana is responsible for the contraction and relaxation of muscle fibers or muscular activity. It means we have to focus our attention on the dhatvagnis paka of Rasa-Rakta-Mamsa and Meda dhatus besides Asthi and Majja dhatus.

See details in Charak Samhita, Chikitsa Sthana 28:14, Bhaishajya Ratnavali, and Rasa yoga Sagar, Krishnadas Academy, Varanasi (1983) V0l I & II

Resources:
TREAT-NMD
http://www.treat-nmd.eu/patients/DMD/intro/

DuchenneConnect
http://www.duchenneconnect.org/

Ayurvedic Research Update by Ayush Samiti

http://www.ayush-samiti.co.in/research/Update%20on%20Ayurvedic%20research.pdf