MDA/Neuromuscular Clinic

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At Le Bonheur's MDA/Neuromuscular Clinic, we provide comprehensive, multidisciplinary care in one appointment by a team specially-trained in neuromuscular diseases. Our mission and commitment is to provide state-of-the-art care for children with neuromuscular diseases giving the resources and support to live their life to the fullest.

Le Bonheur’s program is designated as a Muscular Dystrophy Association (MDA) Care Center and funded by an MDA Care Center Grant. MDA Care Centers provide expert multidisciplinary care and medical research for children living with muscular dystrophy and other neuromuscular diseases.

Our team includes pediatric specialists who have training in neuromuscular disorders including:

The MDA team posing with a patient in the neuromuscular clinic.

Conditions We Treat

The neuromuscular team at Le Bonheur cares for children with a variety of conditions including:

  • Duchenne muscular dystrophy
  • Becker muscular dystrophy
  • Spinal muscular atrophy
  • Charcot Marie Tooth disease
  • Myotonic dystrophy
  • Congenital muscular dystrophy
  • Congenital myopathy
  • Myasthenia Gravis
  • Congenital myasthenic syndrome
  • Dermatomyositis
  • Polymyositis
  • Friedreich ataxia
  • Facioscapulohumeral muscular dystrophy
  • Limb girdle muscular dystrophy
  • Emery Dreifuss
  • Metabolic myopathy
  • Mitochondrial myopathy

Dr. Elena Caron with a patient in the MDA clinic

Treatments for Neuromuscular Disease

Our MDA/Neuromuscular Clinic offers the latest treatments available for children with neuromuscular diseases:

  • Zolgensma: treatment of spinal muscular atrophy in patients younger than 2 years old, delivering a new, working copy of the SMN gene
  • Spinraza: treatment of spinal muscular atrophy types 1, 2 and 3 allowing the body to produce more SMN protein
  • Exondys 51: treatment of Duchenne muscular dystrophy (DMD) with mutation in DMD gene that is amenable to exon 51 skipping
  • Vyondys 53: treatment of Duchenne muscular dystrophy with confirmed mutation of the dystrophin gene that is amenable to exon 53 skipping
  • Evrysdi: oral drug for the treatment of spinal muscular atrophy types 1, 2 and 3 in people 2 months and older that helps to make and maintain more SMN protein

zolgensma bottle

Research

Our physicians and researchers are working on several studies to improve the treatment of children with neuromuscular diseases.

Studies underway include:

  • Cooperative International Neuromuscular Research Group (CINRG)
  • MDA Neuromuscular Disease Registry: collecting data on children with neuromuscular disease to improve survival and quality of life for patients
  • Long-term registry of patients with an SMA diagnosis
  • Randomized study of single vs. multiple Privigen dose regimens in pediatric chronic inflammatory demyelinating polyneuropathy (CIDP)

Recently, we partnered with St. Jude Children’s Research Hospital to form a neuroscience research partnership to rapidly deliver new therapies to children living with genetic neurologic diseases. Trials as a part of this partnership include:

  • Rainbowfish: study of oral Evrysdi in infants with SMA
  • DEVOTE: study of Nusinersen in patients with SMA
  • DMDNH: natural history study of Duchenne muscular dystrophy
  • FA-COMS: Friedrich’s Ataxia clinical outcome measures, a multicenter natural history study

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Contact Us

For more information, contact MDA/Neuromuscular Clinic Coordinator Carrie Knappier, MSN, RN, CPN, at carrie.knappier@lebonheur.org or 901-287-6265.