Muscular Dystrophy – Diagnosis and Treatment
Diagnosis
Muscular dystrophy (MD) is a group of inherited conditions that cause progressive muscle weakness and degeneration.
Diagnosing MD involves a combination of clinical evaluation, family history review, genetic testing, and specialized exams to assess muscle function.
Doctors begin by asking about:
- The pattern and age of muscle weakness onset.
- Any family history of muscular disorders.
- Associated symptoms like frequent falls, trouble walking, or delayed motor milestones.
During a physical exam, they check for:
- Muscle tone and strength
- Reflexes
- Signs of muscle wasting, contractures, or spinal curvature
These observations help identify the specific type and severity of muscular dystrophy.
To confirm the diagnosis and determine the type of muscular dystrophy, doctors may use the following tests:
- Blood Tests (Creatine Kinase or CPK/CK): High levels of this muscle enzyme suggest muscle damage, which is common in many forms of muscular dystrophy.
- Genetic Testing: Identifies mutations in specific genes associated with muscular dystrophy, such as the DMD gene in Duchenne muscular dystrophy.
- Electromyography (EMG): Measures electrical activity in muscles to help distinguish muscular dystrophy from nerve-related conditions.
- Muscle Biopsy: Involves removing a small sample of muscle tissue for microscopic analysis to detect degeneration, inflammation, or abnormal protein levels.
- Heart and Lung Function Tests: Includes electrocardiograms (ECG), echocardiograms, and pulmonary function tests to assess whether the condition has affected the heart or breathing muscles.
In some cases, MRI scans are used to visualize muscle quality and monitor progression over time.
Treatment
Doctors use medications as a main part of treating muscular dystrophy and its different forms, such as Duchenne and Becker muscular dystrophy. The most commonly used drugs are corticosteroids.
| Medication Type | Purpose |
|---|---|
| Corticosteroids | Improve muscle strength, slow disease progress |
| Exon-skipping Drugs | Target genetic mutations in DMD |
| Cardiac Meds | Support heart health |
These medicines help keep muscles stronger for a longer time and may slow down muscle loss. However, long-term use can cause problems such as weight gain and weaker bones, so doctors monitor patients carefully.
People with Duchenne muscular dystrophy who have certain gene mutations may use medicines called “exon-skipping” drugs, which can help some patients.
Doctors also focus on heart care. If muscular dystrophy affects the heart, they may prescribe medications such as ACE inhibitors or beta blockers to manage heart problems.
Researchers continue to explore new drugs and gene therapies through ongoing trials.
Supportive Care
Therapists and specialists help people with muscular dystrophy maintain limb and joint function. Many patients work with a team that includes a neurologist and therapists.
Regular stretching and range-of-motion exercises keep joints flexible and lower the risk of contractures. Light aerobic activities like swimming or walking help maintain mobility, but a doctor should approve any exercise plan.
Braces help keep muscles and tendons stretched, slow down stiffening, and support movement. Mobility devices such as canes, walkers, and wheelchairs help people stay mobile and independent if their leg muscles become weaker.
When breathing muscles lose strength, devices like sleep apnea masks help provide oxygen during sleep. In severe cases, a ventilator can help move air in and out of the lungs.
These therapies help people with daily tasks and keep them moving longer.
Medical Procedures and Operations
Doctors sometimes recommend surgery to manage the effects of muscle diseases. For example, surgery can fix tight joints (contractures) that limit movement or cause pain.
If the spine curves sideways, as in scoliosis, doctors may suggest surgery to straighten the spine and improve breathing.
When muscular dystrophy affects the heart’s rhythm, doctors may place a pacemaker or other heart device to help the heart beat normally.
Surgeons and other doctors work closely with the care team to plan and perform any needed procedures.
