Duchenne Muscular Dystrophy
• Definition
• Introduction
• Cause
• Risk Factors
• Clinical Features
• Types of Muscular Dystrophy
• Diagnosis
• Prognosis
• Treatment
• Ayurvedic aspect.
●Introduction :-
. Muscular Dystrophy is one of the
nine distinct genetic syndromes
that affect muscular strength and
action.
• Muscular Dystrophies are a heterogeneous group of genetically-inherited primary muscle disease having in common, progressive and unremitting muscular weakness.
• Some of these muscular dystrophies become obvious in infancy, and others of which develop in adolescence or young adulthood.
●Cause:-
Lack of a protein called DYSTROPHIN (the largest gene identified in human) is the main cause of muscular dystrophy.
This is caused by genetic mutation in which many are inherited & some occur spontaneously.
●Risk Factors
• Occurs in both sexes.
• All ages & races.
• Duchenne – Usually occurs in young boys.
• Family history of MD.
●Clinical Features
●Generalized or Local muscular weakness
●Inability to walk: Some people with MD eventually need to use a wheelchair.
●Shortening of muscles or tendons around joints ContracturesContractures can further limit mobility.
●Breathing Problems: Progressive weakness can affect the muscles associated with breathing. People with MD may eventually need to use a breathing assistance device (ventilator)
initially at night but possibly also in the day.
●Curved Spine (Scoliosis): -weakened muscles may be unable to hold the spine straight.
●Heart Problems: -MD can reduce the efficiency of the heart muscles.
●Swallowing problem: -swallowing are affected, nutritional problems and aspiration pneumonia may develop. Feeding tubes may be an option.
●Muscle pain & stiffness
Clinical Features
Some more Clinical Features:
●Generalized or Local muscular weakness,
●Progressive muscle fiber necrosis,
●Progressive inability to walk,
●Poor balance,
●Muscle spasms,
●Limited range of movement,
●Regenerative activity,
●Replacement by interstitial fibros is and
Adipose tissue.
●In some instances, neurological, behavioral, cardiac,or other functional limitationMuscular .
●Types of Muscular Dystrophy
• Duchenne’s
• Becker’s
• Myotonic
• Scapulohumeral
• Limb-girdle
• Facio-scapulohumeral
• Occulopharyngeal
Each type of muscular dystrophy is a distinct entity having differences in inheritance pattern, age at onset, clinical features, other organ system involvements and clinical course.
●Duchenne Muscular Dystrophy
• Type of Pseudohypertrophic Muscular Dystrophy
• X-linked recessive
• More than 500,000 individuals suffer from DMD in India.
• Mostly affect males.
• Muscle weakness before 5years
●• Muscles involved:
1. •Neck & Shoulder
2. •Anteriorabdomen(Rectus Abdominis)
3. •Hip & calf muscles
2. •Other affected areas:
1. •Brain
2. •Throat
3. •Heart
4. •Diaphragm / Respiratory Muscles
5. •Stomach & Intestine
6. •Spines
●• Specific Symptoms:
o Frequent fall
o Lordosis (A curving inward of lower back)
o Trouble running or jumping
o Trendelenburg gait (Waddling gait)
o Walking on toes
o Large Calf muscles
o Learning Disability
o Gower’s Sign
●• Diagnosis
• Physical Exam
• A family history
• Tests
7. ●Electromyography (EMG) – A small needle is inserted into the muscle & electrical activity of muscle is studied.
8. ●Muscle biopsy – the removal & exam of small sample of muscle tissue
9. ●DNA (genetic) testing
10. ●Blood Enzyme Test – To look for the presence of Creatine Phosphokinase (CK/CPK), which reveals deterioration of muscle fibres.
●Prognosis
• Prognosis varies according to the type & progression of Muscular Dystrophy.
3. •Virtually all subjects become bedridden by 12 years of age.
1. •About 75% die before the age of 20 years, usually from cardiomyopathy or pulmonary complications.
1. •Some of the muscle diseases do not affect life expectancy at all
●Treatment
• There is currently no cure for Muscular Dystrophy.
• Physical therapy, braces, and corrective surgery may help with some symptoms.
• Assisted ventilation may be required in those with weakness of breathing muscles.
• Medications used include:
1. •steroids to slow muscle degeneration.
2. anticonvulsants to •control seizures and some muscle activity.
3. •immunosuppressants to
delay damage to dying muscle cells.
2. •Gene therapy, as a treatment, is in the early stages of study in humans.
•physiotherapy,Meditation, Yoga, Art & Craft training, Counseling, Morale building etc.
●Ayurvedic Co-relation
मास क्षय
● मांसक्षये,स्फिग्गण्डौष्ठोपस्थोरुवक्षः कक्षापिण्डिकोदरग्रीवाशुष्कतारौक्ष्यतोदौ,गात्राणां सदनं धमनीशैथिल्यं च ॥
(सु.सू. १५/१३)
●चिकित्सा
• संतर्पण चिकित्सा
बृहण चिकित्सा - समान से समान की वृद्धि (मास से मास की वृद्धि) ।
°स्नेहन चिकित्सा - तर्पण, मन्थ आदि। °स्तम्भन चिकित्सा
• ●पंचकर्म
शष्टि शाली पिण्ड स्वेद
अनुवासन बस्ति
शष्टि शाली पिण्ड स्वेद
• Ingredients
o शष्टिक शाली
o गोदुग्ध
o बलामूल
o नारिकेल पत्र
o बला/ क्षीरबला तेल
o आमलकी चुर्ण
o White cotton cloth for पोटली
o Bedsheet
o Table
o Utensils
• Procedure
• In this procedure we use Shashti Rice (a special type of rice harvested in 60 days) processed in herbal decoctions (of bala) and milk tied in a bolus to rub against the whole body or afflicted part of the body so as to provide heat to the pain afflicted joints, muscles or body parts. It is a strengthening therapy. It gives nutrition to the tissues which are undergoing depletion & degeneration. It is a time tested treatment administered to those ailing from musculoskeletal & neuromuscular disease.
●Research
• Organizations working on MD in INDIA:
o All India Muscular Dystrophy Association – Patiala, Punjab
o Indian Association of Muscular Dystrophy (IAMD) – Solan, H.P.
o Indian Muscular Dystrophy Society – Ahmedabad, Gujarat
o Indian Muscular Dystrophy Association – Machilipatanam, Andhra Pradesh
o Muscular Dystrophy Foundation of India (MDF) – Madurai, Tamil Nadu
o Muscular Dystrophy Association India – Chennai, Tamil Nadu
o Sundaram Medical Foundation – Chennai, Tamil Nadu
o Dystrophy Annihilation Research Trust (DART) – 1st Research lab in India focusing on DMD
• DMD/BMD & LGMD are frequently reported MD cases compared to other subtypes in India. An observation in eastern India (Bihar, West Bengal & Bangladesh) reports a higher incidence of the DMD cases in Muslims compared to Hindu population in that region. A separate report in 1997 estimated that there were about 22,000 DMD cases present in India, and more than 2500 cases added every year.
• According to recent Researches – more than 500 thousand boys suffer from DMD in India
• Few recent Researches:
o Microdystrophin gene therapy trial has started.
o Clinical trial HOPE by CAP-1002 ended on 16/11/2017 results in improved functioning of heart in DMD patients.
o Exondys 51 could help to slow lung function decline in Duchenne.
o Pain impacts on quality of life of people with FSHD.
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