TLC Background and Goals

Background

Congenital Muscle Disease Traveling Local Clinics (TLCs) began with the recognition of tremendous knowledge gains in congenital muscle disease diagnosis and medical management in the last 2 decades, driven largely by advances in molecular genetics. Congenital muscle disease encompasses congenital muscular dystrophy and congenital myopathy through the limb girdle and late onset spectrum.

The CMD traveling local clinic (TLC) is a collaboration between Cure CMD, the CMD International Registry (CMDIR) and the Neurogenetics and Neuromuscular Division of Childhood Section (NNDCS) at NINDS. Dr. Carsten Bonnemann, Senior Investigator at NINDS and NNDCS Director and Dr. Anne Rutkowski, Cure CMD Chairman and Kaiser SCPMG Clinical Investigator lead the TLC team. The TLC team is comprised of Sandra Donkervoort, MS, CGC (NINDS), Katy Meilleur, RNP (NINDS), Naz Dastgir, MD (NINDS) and Aimee Merton, RN (CMDIR Clinical Nurse Curator and TLC Lead). Site specific additions to the TLC team may include Mina Jain, PT (NINDS), visiting pediatric pulmonologists and neuromuscular clinicians.

Goals

  1. To teach CMD diagnostic and medical management algorithms
  2. To identify and provide genetic testing, when possible to patients with undiagnosed congenital muscle disease, to increase numbers of molecularly confirmed congenital muscular dystrophy and congenital myopathy patients
  3. To contribute to the Neurogenetics and Neuromuscular Division of Childhood Section (NNDCS/NINDS) Congenital Muscle Disease database using established congenital muscle disease case report forms.
  4. To recognize, provide and support international and national Congenital Muscle Disease scientific, medical, and family communities
  5. To promote registration within the CMD International Registry and donate to CMD BioBank as desired

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  • Congenital Muscular Dystrophy

    A group of diseases causing muscle weakness at birth. Several defined genetic mutations cause muscles to break down faster than they can repair or grow. A child with CMD may have various neurological or physical impairments. Some children never gain the ability to walk, while others lose the ability as they grow older. Learn more...

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