Becker muscular dystrophy

বেকার মাসকুলার ডিস্ট্রফি হলো এক ধরনের সেক্স লিংকড (X-লিংকড) মাসকুলার ডিস্ট্রফি।

পুরুষদের শরীরে একটি X ক্রোমোজোম আর একটি Y ক্রোমোজোম থাকে। ক্রোমোজোম হলো ডিএনএ (DNA) দিয়ে তৈরি লম্বা সুতার মতো গঠন। নারীদের শরীরে থাকে দুটি X ক্রোমোজোম।

X ক্রোমোজোমের কোনো জিনে মিউটেশন বা পরিবর্তন হলে সেক্স লিংকড রোগ হয়।

পুরুষদের X ক্রোমোজোমের প্রতিটি জিনের মাত্র একটি কপি থাকে। তাই সেই জিনে মিউটেশন হলে তাঁরা এই রোগে আক্রান্ত হন।

নারীদের X ক্রোমোজোমের 2টি কপি থাকে, তাই তাঁদের X-লিংকড রোগ হওয়ার সম্ভাবনা কম। কারণ ক্রোমোজোমের সুস্থ কপিটি সাধারণত মিউটেশন হওয়া কপির প্রভাব ঢেকে রাখতে পারে। নারীরাও X-লিংকড রোগে আক্রান্ত হতে পারেন, তবে তাঁদের উপসর্গ সাধারণত তুলনামূলক হালকা হয়।

Diagnosing Becker muscular dystrophy

There are different methods used to diagnose muscular dystrophy.

Diagnosis might involve:

• investigating your symptoms
• family history
• physical exam
• blood tests
• electrical tests on the nerves and muscles
• muscle biopsy (where a sample of tissue is removed for testing)

Contact your GP practice if:

You or your child has:

• muscle weakness
• mobility problems

Diagnosis of manifesting female carriers of Becker MD

You might have a physical exam and blood tests to help confirm if you are a manifesting carrier of Duchenne or Becker MD.

A muscle MRI can sometimes help.

You’ll see a cardiologist (heart specialist) to assess your heart function. It’s likely you’ll have an ECG and echocardiogram.

Treatment of Becker MD

Treatment is available to help with many of the symptoms of Becker MD.

Physical problems might be helped with:

• low-impact exercise like swimming
• physiotherapy to work on muscle strength and flexibility
• physical aids like a walking stick, crutches or a wheelchair
• occupational therapy to help maintain independence

People with Becker MD may eventually become unable to walk and need a wheelchair. Occasionally, this happens to people in their 20’s and 30’s but this is rare. It normally happens as a person gets older, in their 40’s, 50’s or even later.

Your heart muscles, and the muscles you use to breathe, might be affected by MD. This can cause life threatening complications.

Your heart function should be assessed by a cardiologist (heart specialist) after an MD diagnosis (if it hasn’t been already).

Some people with Becker MD might experience heart problems (cardiomyopathy). This can happen at any age. These heart problems often don’t cause any symptoms and there are treatments available. You should have regular heart monitoring as part of your care if you have Becker MD.

You’ll probably have regular electrocardiograms (ECGs) to examine your heart rhythm. You might occasionally have an echocardiogram. An MRI scan might be carried out to check for heart problems.

You might be advised to take medicine for your heart problems. Your doctor might prescribe ACE inhibitors, beta blockers or other medicines.

You heart rhythm might be affected. You might have a pacemaker or an ICD (implantable cardioverter defibrillator) inserted to help with your heart function.

You might experience problems with breathing. This is more common in the later stages of the condition.

People with Becker MD are at a higher risk of complications during general anaesthesia. This can be because of their heart and breathing problems. It’s important to tell your doctor if you have Becker MD if you need general anaesthetic.

Bladder problems are common in patients with muscle disorders like muscular dystrophy.

You might experience urinary incontinence, where you pee by accident. This is often caused by weakness of the pelvic floor muscles, combined with weakness of the core muscles.

You’re more likely to experience urinary incontinence if you:

• have poor mobility
• spend a lot of time sitting down

Pelvic floor exercise may be helpful. An urgent need to pee can sometimes be helped with medication.

You might experience bowel problems like:

• chronic constipation
• diarrhoea with little warning
• bowel incontinence

If you tend to drink less water than is recommended to avoid going to the toilet during the day this could cause dehydration. This can make constipation worse and contribute to bowel problems.

Using a gentle laxative like Lactulose regularly during the week may help. can sometimes be helped with medication.

An assessment by a psychologist can help people with behavioural problems, learning difficulties or autism as a result of Becker MD.

Read more about Becker MD

Manifesting female carriers of Duchenne or Becker MD

Duchenne and Becker muscular dystrophy usually affect only males. However some females can also be affected as manifesting carriers.

Symptoms can be very mild and you might only experience muscle pain and cramps.

Sometimes you might have heart problems (cardiomyopathy) but no limb weakness. Rarely, you might have severe limb weakness similar to Becker MD.

Treatment of manifesting female carriers of Becker MD

You might gradually start to lose strength and mobility as your MD symptoms progress.

Physical problems might be helped with:

• low-impact exercise like swimming
• physiotherapy to work on muscle strength and flexibility
• physical aids like a walking stick, crutches or a wheelchair
• occupational therapy to help maintain independence

You might be advised to take medicine for your heart problems like ACE inhibitors or beta blockers.

It’s common to experience pain as part of your symptoms. You might be prescribed painkillers to help manage your pain.

Speak to your GP if you’re feeling anxious or depressed. There are treatment options and resources available to help you.

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