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:
- Having difficulty climbing stairs?
- 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?
If you have noticed any of these symptoms in yourself or your child, please get in touch with IAMD on 01792-292037 / 92180 98999 or 92180 88880 (Mon ~ Sat 10:00 AM to 6:00 PM)
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?
If you have been diagnosed with Muscular Dystrophy, please contact IAMD and organise a minimum 7 day visit. You can read more about the Muscular Dystrophy Centre here and book your visit here.
At Integrated Muscular Dystrophy Rehabilitation Center (IMDRC), we have developed a comprehensive minimum 7 day program to guide you and your family on living a fruitful life with Muscular Dystrophy. We have a number of facilities and offer a number of therapies that will inform you how to live a fruitful life with Muscular Dystrophy.
The staff at IAMD are dedicated towards improving you 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.