Neuromuscular Disorders Clinic

Norton Children’s Neuroscience Institute, affiliated with the UofL School of Medicine, Neuromuscular Disorders Clinic specializes in caring for children with neuromuscular diseases.

The Neuromuscular Disorders Clinic is staffed by 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.

Most neuromuscular disorders are genetic, meaning a child is born with one, although some can develop after birth. These types of disorders involve the nerves and can affect muscles in the trunk and limbs. Healthy muscles are needed not just for moving well, but also for breathing, eating and swallowing functions.

Neuromuscular disorders generally are progressive, meaning they lead to loss of nerve or muscle function over time.

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 dystrophy (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’s 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
    • Acid maltase deficiency (AMD, Pompe disease)
    • Carnitine deficiency
    • Carnitine palmitoyltransferase deficiency
    • Debrancher enzyme deficiency (Cori disease, Forbes disease)
    • Lactate dehydrogenase deficiency
    • Myoadenylate deaminase deficiency
    • Phosphofructokinase deficiency (Tarui disease)
    • Phosphoglycerate kinase deficiency
    • Phosphoglycerate mutase deficiency
    • Phosphorylase deficiency (McArdle disease)

Neuromuscular Junction Diseases

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

Peripheral Nerve Disease

Neuromuscular Disorders Clinic Specialties

The Norton Children’s Neuroscience Institute Neuromuscular Disorders 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
  • Muscular Dystrophy Association representatives
  • Care coordinator
  • Nutrition
  • Physical, occupational and speech therapies
  • Respiratory therapy
  • Social work
  • Wheelchair therapy
  • Genetics
  • Palliative care

Which specialty providers a child sees is based on the child’s current complexity, stage and progression of the disorder.

Norton Children’s Neuroscience Institute Neuromuscular Disorders Clinic

Second and fourth Monday of every month
Novak Center for Children’s Health, Sixth Level
411 E. Chestnut St.
Louisville, KY 40202
(502) 588-3650

Neuroscience Institute Neuromuscular Disorders Clinic

Norton Children’s Neuroscience Institute Neuromuscular Disorders Clinic

(502) 588-3650

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