Do I or my child have Muscular Dystrophy?
The quality of life for an individual affected by Muscular Dystrophy can be significantly improved with early recognition and diagnosis.
The first step is talking to your primary care doctor if you notice signs of muscle weakness — such as clumsiness or falling — in yourself or your child. Your doctor will start with a physical exam.
Have you noticed any of these symptoms?
The first step is to take note of symptoms in yourself or your child. Have you noticed:
- Muscle pain?
- Get easily tired?
- Appear to have wasted/smaller/weaker muscles?
- Trouble running or jumping?
- Waddling gait? (If you are unsure what that is, watch this video)
- Large calf muscles?
- Muscles are pain and/or stiff?
- Delayed physical growth? (compared to others of similar age)
- Difficulty standing up from a sitting or lying position?
- Having difficulty learning?
What is involved in a diagnosis?
Muscular Dystrophy is a genetic condition usually (but not always) inherited from one or both parents. It can also skip family generations. Hence the doctor will ask you about your family history and if anyone was diagnosed with Muscular Dystrophy previous and the category.
You may also be required to undergo a number of tests such as:
|Type of test||What does the test involve?|
|Blood enzyme tests||Check for higher-than-normal creatine kinase (CK) levels, which may reveal inflammation or the death of muscle fibers. Creatine kinase is an enzyme that’s released into the bloodstream when muscle fibers are deteriorating.|
|Electromyography||Test to measure electrical activity generated by muscle cells when they are activated by a nerve impulse. In people with Muscular Dystrophy, the muscles do not respond well to electrical stimulation.|
|Nerve conduction tests||Test to measure how well electrical impulses travel through a nerve. a slower electrical response can be a sign of Muscular Dystrophy|
|Neurological tests||Tests to measure reflexes and exercise assessment to evaluate the strength and respiratory function|
|Muscle biopsy||A small sample of muscle is removed for examination (under anesthesia). The sample is then inspected under a microscope and aids in determining the specific Muscular Dystrophy you or your child may have.In many cases the presenting symptoms, family history and muscle biopsy results can determine the specific Muscular Dystrophy.|
|Genetic (DNA) testing||This may be done alongside a muscle biopsy and aids in determining the specific mutation causing the Muscular Dystrophy. This is usually done by inspecting DNA from either from a Blood sample, cheek swab, skin biopsy or may be taken from the musle biopsy.|
I have a confirmed Muscular Dystrophy diagnosis. What next?
Established in 1992, IAMD has been working field of Muscular Dystrophy and other neuromuscular disabilities in the state of Himachal Pradesh and is one of the earliest organisations in India specialised in managing Muscular Dystrophy.
In its initial years Indian Association of Muscular Dystrophy focused on increasing awareness of Muscular Dystrophy throughout India and within government bodies. We subsequently established a dedicated Muscular Dystrophy Centre Manav Mandir (at Solan, Himachal Pradesh); an all encompassing therapy centre where Muscular Dystrophy specialists and affected individuals can come together in a safe, family-like environment and learn how to manage their Muscular Dystrophy and live a productive and fulling life.
We have developed a comprehensive minimum 7 day program to guide the affected individual and his/her family on living a fruitful life with Muscular Dystrophy.
The staff at IAMD are dedicated towards improving your or your child’s quality of life:
- We will help you or your child build a strong support system including regular family counselling and psychological support and help you gain self esteem & confidence.
- You will have access to best practices in long term management of Muscular Dystrophy.
- We have established links with researchers in the field of Muscular Dystrophy to ensure you have access to diagnosis, testing facilities and therapies to manage and/or delay progression of Muscular Dystrophy.
- We have established links with researchers in the field of Allopathy, ISM and alternative medicines.
- We will provide you and/or your child genetic counselling so that you are informed on how to best manage your lifelong condition.