Norton Children’s Neuroscience Institute Muscular Dystrophy Clinic specializes in treating children with diseases that affect the nervous system, from motor neurons to muscle. These conditions generally are progressive, meaning they lead to loss of nerve or muscle function over time.

What We Do

Most neuromuscular disorders are genetic in children, but they can be acquired. Healthy muscles are needed not just for moving well, but also for breathing, eating and swallowing. These functions may be affected by a neuromuscular disorder, but severity may be affected by another condition.

The Norton Children’s Neuroscience Institute Muscular Dystrophy Clinic is made up of board-certified, fellowship-trained physicians from across the Norton Children’s network of pediatric specialists. They understand the unique challenges a neuromuscular disorder can present for a child and family.

Our multidisciplinary approach to care allows your child to be evaluated by several pediatric specialists within the same visit. These specialists share clinic space, working to provide a comprehensive, thoughtful evaluation and treatment plan to address your child’s specific needs.

Types of Neuromuscular Disorders We Treat

We treat all types of genetic and acquired neuromuscular disorders that affect children, including but not limited to:

Muscular Dystrophies

• Duchenne muscular dystrophy (DMD)
• Becker muscular dystrophy
• Myotonic dystrophy (DM)
• Limb-girdle muscular dystrophy (LGMD)
• Congenital muscular dystrophies (CMD)
• Emery-Dreifuss muscular dystrophy (EDMD)

Motor Neuron Diseases

• Spinal muscular atrophy (SMA)
• Spinal muscular atrophy with respiratory distress type 1
• Spinal-bulbar muscular atrophy (SBMA)

Ion Channel Diseases

• Hyperkalemic periodic paralysis
• Hypokalemic periodic paralysis
• Myotonia congenita
• Paramyotonia congenita

Mitochondrial Diseases

• Friedreich ataxia (FA)
• Mitochondrial myopathies

Myopathies

• Congenital myopathies
  • Centronuclear myopathies
  • Core myopathies
    • Central core disease
    • Multiminicore myopathies
  • Nemaline myopathies
• Distal myopathies
• Endocrine myopathies
• Inflammatory myopathies
  • Dermatomyositis
  • Inclusion-body myositis
  • Polymyositis
• Metabolic myopathies

Neuromuscular Junction Diseases

• Congenital myasthenic syndromes (CMS)
• Myasthenia gravis (MG)

Peripheral Nerve Diseases

• Charcot-Marie-Tooth disease (CMT)

Specialties

The Norton Children’s Neuroscience Institute Muscular Dystrophy Clinic core team consists of board-certified, fellowship-trained physicians, advanced practice providers, therapists, nurses and other health care professionals in various pediatric specialties, including:

• Neurology
• Pulmonology
• Cardiology
• Orthopedics
• Physical medicine and rehabilitation
• Endocrinology
• Nutrition
• Pediatric rehabilitation services
• Respiratory therapy
• Social work
• Genetics (available as needed)
• Palliative care (available as needed)
• Wheelchair assistance

Treatment

Treatments will be based on a child’s specific neuromuscular condition, the severity of the condition, as well as the child’s health history, age and expected course of the condition.

Location

Norton Children’s Neuroscience Institute Muscular Dystrophy Clinic
Second and fourth Mondays of every month
Novak Center for Children’s Health, Level 6
411 E. Chestnut St.
Louisville, KY 40202