California Sports and Rehab | Dr. Hakimian, Nerve Specialist in Los Angeles and Orange County

What Is Muscular Dystrophy?

Muscular dystrophy (MD) refers to a group of more than 30 inherited muscle diseases that cause progressive muscle weakness and loss of muscle mass. These disorders occur when genetic mutations interfere with the production of proteins that keep muscle fibers healthy and strong.

Over time, muscles become weaker, making it harder to move, walk, or perform daily activities. Some forms appear in early childhood, while others develop later in adulthood. Although there’s currently no cure, treatment and rehabilitation can help manage symptoms, slow progression, and improve quality of life.

Common Symptoms of Muscular Dystrophy

Symptoms vary based on the type of muscular dystrophy, but the hallmark feature is progressive muscle weakness.

Common signs include:

Difficulty walking, climbing stairs, or running
Frequent falls or clumsiness
Trouble getting up from sitting or lying positions
Muscle stiffness or cramping
Waddling gait or walking on toes
Enlarged calf muscles
Fatigue and muscle pain
Trouble swallowing or breathing (in advanced cases)
Learning or developmental delays in children

If you or your child show signs of delayed movement, frequent falls, or unusual muscle weakness, schedule an evaluation with a nerve specialist like Dr. Hakimian.

Types of Muscular Dystrophy

There are many forms of muscular dystrophy. The most common types include:

Duchenne Muscular Dystrophy (DMD)

The most common childhood form (mainly affects boys).
Symptoms usually start between ages 2–6.
Common signs: delayed walking, frequent falls, difficulty climbing stairs, enlarged calves.
Progresses rapidly and may affect the heart and lungs.

Becker Muscular Dystrophy (BMD)

Similar to Duchenne but milder and slower to progress.
Symptoms usually appear in the teenage years or early adulthood.

Myotonic Dystrophy (Steinert’s Disease)

The most common adult-onset form.
Causes muscles to have difficulty relaxing after use (myotonia).
May also affect the heart, lungs, and endocrine system.

Facioscapulohumeral Muscular Dystrophy (FSHD)

Affects muscles of the face, shoulders, and upper arms.
Often begins in adolescence or early adulthood.
Can cause difficulty closing the eyes or lifting the arms.

Limb-Girdle Muscular Dystrophy (LGMD)

Affects shoulder and hip muscles.
Can appear at any age and progress slowly or quickly.

Congenital Muscular Dystrophy (CMD)

Present at birth or early infancy.
Causes “floppy” muscle tone, delayed movement milestones, and sometimes joint stiffness.

Oculopharyngeal Muscular Dystrophy (OPMD)

Usually begins in middle age.

Affects the eyelids and throat, causing droopy eyes and swallowing difficulties.

What Causes Muscular Dystrophy?

Muscular dystrophy results from mutations in genes that control the production of muscle-protecting proteins. These mutations can be:

Inherited from one or both parents, or
Spontaneous (de novo) — appearing for the first time without a family history.

The inheritance pattern depends on the type of muscular dystrophy:

X-linked (sex-linked): Usually affects males (Duchenne, Becker).
Dominant: Only one parent needs to carry the mutation (Myotonic, FSHD).

Recessive: Both parents must pass on the defective gene (Limb-Girdle).

How Muscular Dystrophy Is Diagnosed

Early diagnosis is important to help manage symptoms and plan long-term care. At California Sports and Rehab, Dr. Hakimian uses specialized tests to evaluate muscle and nerve function, helping identify which type of muscular dystrophy may be present.

Common diagnostic tests include:

Physical & Neurological Exam – Assesses muscle strength, coordination, and reflexes.
Blood Tests (Creatine Kinase) – Elevated CK levels suggest muscle damage.
Genetic Testing – Identifies specific gene mutations linked to muscular dystrophy.
Muscle Biopsy – Analyzes muscle tissue under a microscope.
EMG (Electromyography) – Measures electrical activity in muscles to detect abnormal patterns.
Nerve Conduction Studies (NCV) – Checks how fast electrical signals travel through nerves.

EMG and NCV testing with Dr. Hakimian can help distinguish muscular dystrophy from other conditions like neuropathy or myositis, guiding accurate diagnosis and treatment.

Treatment and Management

Although there is no cure, many therapies can improve strength, comfort, and independence.

Treatment options include:

Physical & Occupational Therapy: Maintain mobility, stretch tight muscles, and improve posture.
Corticosteroids (e.g., Prednisone): Slow muscle degeneration and improve strength.
Heart & Lung Care: Medications or pacemakers may support cardiac function.
Respiratory Support: Devices like cough assist or ventilators help with breathing.
Mobility Aids: Braces, canes, or wheelchairs enhance independence.
Surgical Interventions: For scoliosis correction or muscle contracture release.

Newer Medications: Targeted gene therapies (such as eteplirsen or golodirsen for Duchenne) are showing promise.

Living with Muscular Dystrophy

Living with muscular dystrophy can be challenging—but with the right care and support, many people lead fulfilling lives.

Helpful tips include:

Stay consistent with therapy and exercise routines.
Eat a balanced diet to support muscle and bone health.
Use adaptive equipment for safety and independence.
Attend regular heart and lung checkups.

Seek emotional and social support from professionals or support groups.

Frequently Asked Questions (FAQ)

Q1: Is muscular dystrophy curable?

Not yet—but modern treatments can slow progression, reduce complications, and improve quality of life.

Q2: How is muscular dystrophy different from myositis?

Myositis is caused by inflammation due to an autoimmune reaction, while muscular dystrophy is genetic and caused by mutations in muscle-related genes.

Q3: How can EMG or NCV help diagnose muscular dystrophy?

These tests measure how well your muscles and nerves communicate. They help rule out other neuromuscular disorders and confirm muscle-related causes of weakness.

Q4: Can exercise help?

Yes, under supervision. Gentle physical therapy helps maintain flexibility and strength without overstraining muscles.

Q5: When should I see a nerve specialist?

If you or your child experience persistent muscle weakness, delayed walking, or difficulty with daily movements, see a nerve doctor like Dr. Hakimian for evaluation and testing.

When to See Dr. Hakimian

Early evaluation and testing can make a major difference in managing muscular dystrophy and other neuromuscular disorders. Dr. Hakimian at California Sports and Rehab provides advanced diagnostic testing — including EMG and Nerve Conduction Studies.

📞 Call 310-652-6060 or Request an Appointment Online to schedule your consultation today.

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California Sports and Rehab | Dr. Hakimian, Nerve Specialist in Los Angeles and Orange County

What Is Muscular Dystrophy?

Common Symptoms of Muscular Dystrophy