• About Muscular Dystrophy

    Not a disease but a genetic disorder that might occur even as a fresh mutation

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  • Types of Muscular Dystrophy

    Only organization in India that cares for all types of muscular dystrophy patients

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  • Latest research

    Facilitating access to clinical trials and research updates

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  • Diagnosis

    DNA testing (MLPA) for DMD/BMD simplified

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  • Prevention

    Don’t pass muscular dystrophy on to generations. You can stop it!

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About Muscular Dystrophy

Since the awareness of MD is limited among the public worldwide, and especially in India, this section offers some basic facts about MD. We also hope this will help the reader know the gravity of the situation and our justification for intervention.

‘Muscular Dystrophy’ (MD) refers to a group of degenerative, muscle destroying, neuromuscular disorder diseases to which no cure is available till date. The cause of the disease is simply said to be ‘a defective gene’ and the disease is hereditary as well as ‘instant’ by its nature. The progressive deterioration which usually starts from external muscles of the body spreads to destroy the internal such as lung muscles and cardiac muscles. Though there are variations across the 9 major types of Muscular Dystrophy, all of them collapse the normal living ability of the afflicted. Particularly, the two types: Duchene Muscular Dystrophy (DMD) and Becker Muscular Dystrophy (BMD) which are the most common are the killer diseases too. When the DMD confines a patient to wheel chair in the age of 7-10, it could also take away their life by 20-23 at the most. However, this situation is not universal!  It varies from country to country, and patient to patient; depending on the living environment, medical and other support services available. Whatever be the age of death, the DMD disables the person by almost 100% forcing them to depend on other’s help for everything: to bathe or eat or just drink a glass of water. Besides this total dependency, the pain and other secondary problems caused by MD are usually beyond the managing level of the patient; just unbearable for a child.

There is no single disease called Muscular Dystrophy. The term designates a group of hereditary muscle-destroying disorders, which vary in inheritance pattern, age of on-set, initial muscles attacked and rate of progression.

There are about 9 forms of MD, out of which DMD and BMD are more severe and life challenging.

Major types of Muscular Dystrophies
(source: www.mdausa.org )

Duchenne Muscular Dystrophy (DMD - Also known as Pseudohypertrophic)

Onset 

Early childhood – about 2 to 6 years.

Symptoms

Generalized weakness and muscle wasting affecting limb and trunk muscles first. Calves often enlarged.

Progression

Disease progresses slowly but will affect all voluntary muscles. Survival rare beyond late twenties.

Inheritance

X-linked recessive (females are carriers)

Becker Muscular Dystrophy (BMD)

Onset 

Adolescence or adulthood.

Symptoms

Almost identical to Duchenne but often much less severe.  Can be significant heart involvements.

Progression

Slower and more variable than Duchenne with survival well into mid to late childhood.

Inheritance

X-linked recessive (female are carriers).

Emery-Dreifuss Muscular Dystrophy (EDMD)

Onset 

Childhood to early teens.

Symptoms

Weakness and wasting of shoulder, upper arm and shin muscles. Joint deformities are common.

Progression

Disease usually progresses slowly.  Frequent cardiac complications are common.

Inheritance

X-linked recessive (female are carriers)

Limb-Girdle Muscular Dystrophy (LGMD)

Onset 

Childhood to middle age.

Symptoms

Weakness and wasting affecting shoulder and pelvic girdles first.

Progression

Usually progresses slowly with cardiopulmonary complications often occurring in later stages of the disease.

Inheritance

Autosomal recessive, X-linked recessive.

Facioscapulohumeral Muscular Dystrophy (FSH or FSHD - Also known as Landouzy-Dejerine)

Onset 

Childhood to early adulthood.

Symptoms

Facial muscle weak ness, with weakness and wasting of the shoulders and upper arms.

Progression

Progresses slowly with some periods of rapid deterioration.  Disease may span many decades.

Inheritance

Autosomal dominant.

Myotonic Dystrophy (DM-Also known as Steinert’s Disease)

Onset 

Childhood to middle age.

Symptoms

Generalized weakness and muscle wasting affecting face, feet, hands and neck first.  Delayed relaxation of muscles after contraction. Congenital myotonic form is more severe.

Progression

Progression is slow, sometimes spanning 50 to 60 years.

Inheritance

Autosomal dominant.

Oculopharyngeal Muscular Dystrophy (OPMD)

Onset 

Early adulthood to middle age.

Symptoms

First affects muscles of eyelid and throat.

Progression

Slow progression with swallowing problems common as disease progresses.

Inheritance

Autosomal dominant.

Distal Muscular Dystrophy (DD) (Myoshi)

Onset 

40 – 60 years

Symptoms

Weakness and wasting of muscles of the hand s, forearms and lower legs.

Progression

Slow progression but not life threatening.

Inheritance

Autosomal dominant.

Congenital Muscular Dystrophy (CMD)

Onset 

At birth

Symptoms

Generalized muscle weakness with possible joint deformities.

Progression

Disease progresses very slowly. Fukuyama form is more severe and involves mental functions.

Inheritance

Autosomal recessive, autosomal dominant.

Symptoms of DMD

"Although the disease is present from conception, symptoms do not usually develop until the child is 5 or 6 years old. The natural course of the disease is that the symptoms result from weakness of the muscles. First, a boy affected with DMD will have some difficulty in keeping up with other children when running. He'll develop a characteristic 'waddling' run (as he becomes weaker) that will also be present when he walks. He'll have difficulty going up steps, and have to first put one foot, then other foot, on the same step before moving on to the next one. Soon he'll have to pull himself up using the hand rail. Over the next few moths, he will walk more on his tiptoes, and develop a forward curvature of his spine - a "lordosis".

At this stage, the muscles will look healthy or may even be enlarged - "Pseudo hypertrophy". The boy will start to fall more often and be able to raise again only by pulling on objects or by placing his hands on the floor while standing and then lifting his upper body by 'climbing' up on his legs with his hands. He'll soon have to get out of a chair in the same way.

Inevitably, the weakness progress until the child can no longer walk and requires the use of a wheel chair. The age at which this happens varies, but most children are between 8 and 10 years old and virtually all use a wheel chair by age 12".

Disclaimer: Although great care has been taken in compilation and preparation of this brochure, mdfindia cannot accept any responsibility for any errors or omissions. Any medical information provided is for education / information purposes only. You should obtain further information / advice from your medical practitioner.