Muscular Dystrophy

Our multidisciplinary neuromuscular team is skilled in the latest treatments and supportive care for hereditary disorders, including different types of muscular dystrophy in adults.

Hereditary disorders are caused by a genetic mutation that interferes with normal functions and growth of muscles, nerves and supportive structures necessary to maintain healthy status.

Our team is focused on helping you remain mobile and fight limitations and disabilities for as long as possible, using the latest treatment options.

The Orlando Health Neuroscience Institute offers the latest treatments – including medications, physical and occupational therapy, and surgery – in both inpatient and outpatient settings. We merge the newest technology with a shared wealth of knowledge and experience to give you seamless care through each stage of your treatment.

Symptoms

There are many types of muscular dystrophy. Symptoms of the most common varieties begin in childhood, but some types don't surface until adulthood.  Symptoms will vary, based on the type of hereditary disorder. Common symptoms include:

Common Hereditary Disorders Treated at the Muscular Dystrophy Clinic

Muscular Dystrophies
  • Becker/Duchenne muscular dystrophy
  • Congenital muscular dystrophies
  • Emery-Dreifuss muscular dystrophy
  • Facioscapulohumeral muscular dystrophy
  • Limb-girdle muscular dystrophies
  • Myotonic dystrophy
  • Oculopharyngeal muscular dystrophy
Motor Neuron Diseases
  • ALS (amyotrophic lateral sclerosis)
  • Spinal muscular atrophy
Ion Channel Diseases
  • Andersen-Tawil syndrome
  • Hyperkalemic periodic paralysis
  • Hypokalemic periodic paralysis
  • Myotonia congenita
  • Paramyotonia congenita
Mitochondrial Diseases
  • Friedreich’s ataxia (FA)
  • Mitochondrial myopathies
Myopathies
  • Congenital myopathies
  • Distal myopathies
  • Inflammatory myopathies
  • Metabolic myopathies
Neuromuscular Junction Diseases
  • Congenital myasthenic syndromes
Peripheral Nerve Diseases
  • Charcot-Marie-Tooth disease
  • Hereditary Sensory and Autonomic neuropathies

Diagnosis

Diagnosis begins with your doctor gathering a detailed medical history and completing a physical examination. That is likely to be followed by:

Blood Work Including Genetic Testing

Genetic testing with the latest sequencing method (along with free and low-cost tests) has revolutionized the diagnosis of hereditary disorders.

Nerve Conduction and Electromyography

This involves inserting an electrode needle into the muscle. It measures electrical activity as you relax and tighten the muscle. The electrical pattern can confirm a muscle disease. We also follow some studies with high-frequency ultrasound as needed.

Cardiac and Pulmonary evaluation

By referral to Cardiology and pulmonary specialists for proper examination and tests will be done if you've been diagnosed with myotonic muscular dystrophy.

Treatment

Treatment for some forms of the disease can help maintain a better quality of life. Our team will provide you with comprehensive care and monitoring throughout your life. Depending on which version of the disease you have, your care team can include a proper specialist and therapists. You also may need the support of a lung, heart, neurosurgery, orthopedic, pain and psychology specialist. Ongoing assessments of different functional statuses will help you and our team develop the best course of treatment as the disease progresses.

Treatment includes modalities of medication, therapy, or surgery based on the disorder.

 

Clinical Trials

Clinical trials offer a way for our patients to take an active part in the latest research regarding diagnosis, treatment and management of muscular dystrophy. Talk with your doctor to see if a particular clinical trial is right for you. Click here to view our actively enrolling clinical trials.

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