Muscular dystrophy: getting a diagnosis and understanding its impact on lives

As a condition that greatly affects both individuals and their families, getting an early diagnosis of muscular dystrophy is crucial for proper management and care.

With the previous blog in this series looking at the different types of muscular dystrophy, it’s important to shed light on the different ways the disease can be diagnosed, as well as learn about the impact of it on the lives of those affected.

Initial symptoms

Early signs of muscular dystrophy may vary depending on the type and age of onset.

Typical symptoms include muscle weakness, difficulty walking or maintaining balance, and frequent falls.

In some cases, difficulty in swallowing or breathing may also occur.

Diagnostic methods

Whilst not everybody will be diagnosed in the same way, below are some of the common ways of diagnosing muscular dystrophy:

  • Clinical evaluation: The diagnostic process usually begins with a thorough clinical evaluation, which includes taking a detailed family history to identify any hereditary patterns.
  • Blood tests: A blood test is one of the initial steps in diagnosis, although it is not definitive.
  • Genetic testing: To confirm the diagnosis, genetic testing is often recommended. This test can identify the specific mutations causing the disorder, providing vital information for prognosis.
  • Muscle biopsy: In some cases, a muscle biopsy may be required. A small sample of muscle tissue is extracted and analysed for signs of muscle degeneration.
  • Imaging tests: MRI and ultrasound scans can also help visualise muscle condition and serve as a guide for further diagnostic tests.

Impact on lives

One of the most common ways in which muscular dystrophy can have an impact is how it severely limits mobility and physical activity. Assistive devices like wheelchairs may become necessary as the disease progresses.

The chronic nature of the disorder can also lead to emotional and psychological distress. Anxiety and depression are not uncommon among individuals and their families, as the disease can take its toll on both parties.

In addition to this, the need for ongoing care, assistive devices, and home modifications because of the physical symptoms of the disease can pose a significant financial challenge for many individuals and families.

Something which may not be thought about as much (but can be just as debilitating), is the social isolation aspect of the disease. This can happen as activities that were once straightforward become increasingly challenging and inaccessible.

Management and support

While there is currently no cure for muscular dystrophy, management strategies can help alleviate or reduce physical symptoms.

Some of these methods include physical therapy, medications to manage symptoms, and emotional support to improve quality of life. Support groups and counselling can also be invaluable resources to those who are struggling with the emotional aspects of the disease.

Here at Synergy Complex Care, we are highly experienced in providing highly tailored care to enable individuals with muscular dystrophy to live their lives to the full.

Alongside our support plans, we can also help with continence care, cough assistance and ventilator care amongst other things.

If you would like support for yourself or a loved one with muscular dystrophy, please get in touch with us today.

Posted in General.