Standards of Care

Groups of experts around the world are working together to develop consensus standards detailing best practice in diagnosis and care of individual neuromuscular conditions. As well as the academic consensus documents, family friendly guides have been produced which are aimed at those without a medical background. Guides are currently available for 3 conditions:

  • Duchenne muscular dystrophy (DMD)
  • Spinal muscular atrophy (SMA)
  • Congenital muscular dystrophy (CMD)

More information about the development of consensus standards is available from TREAT-NMD here.

DMD Care Standards

Image of DMD Standards of Care booklet

2018 STANDARDS OF CARE UPDATE

In partnership with the US Centers for Disease Control and Prevention (CDC), PPMD advocates for and participates in the development, and updates, of standards of care for Duchenne.
In 2018, the updated Care Considerations were published in Lancet Neurology and can be downloaded here.

CMD Care Standards

Image of CMD Standards of Care booklet
The “Consensus Statement on Standard of Care for Congenital Muscular Dystrophies” was published in the Journal of Child Neurology in November 2010. The family guide is available here.

SMA Care Standards

Image of SMA Standards of Care booklet
The “Consensus Statement for Standard of Care in Spinal Muscular Atrophy”, was published in the Journal of Child Neurology in August 2007.
The family guide is available here.

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1. Muscular Dystrophies

  • Becker muscular dystrophy
  • Duchenne muscular dystrophy
  • Manifesting carrier of Duchenne
  • Congenital muscular dystrophy - General
  • • MDC1A (merosin-deficient congenital muscular dystrophy)
  • • Rigid spine syndrome (RSS)
  • • Ullrich congenital muscular dystrophies
  • • Bethlem myopathy
  • Emery-Dreifuss muscular dystrophy

2. Myotonic Disorders

  • Congenital Myotonic Dystrophy
  • Myotonia
  • Myotonic Dystrophy

3. Congenital Myopathies

  • Central Core Myopathy
  • Minicore (Multicore) myopathy
  • Myotubular or Centronuclear myopathy
  • Nemaline myopathy

4. Mitochondrial Myopathies

  • Mitochondrial Myopathies

5. Metabolic Disorders

  • Metabolic disorders (general)
  • McArdle’s Disease
  • Pompe’s Disease

6. Periodic Paralyses

  • Periodic Paralyses

7. Autoimmune Myositides

  • Polymyositis, Dermatomyositis and Sarcoid myopathy
  • Juvenile dermatomyositis
  • Inclusion body myositis

8. Spinal Muscular Atrophies

  • Severe (Type I)
  • Intermediate (Type II)
  • Mild (Type III)
  • Adult spinal muscular atrophy

9. Hereditary Motor and Sensory Neuropathies

  • (Also known as Charcot-Marie-Tooth or Peroneal muscular atrophy)

10. Disorders of the Neuromuscular Junction

  • Congenital myasthenic syndromes
  • Myasthenia Gravis

11. Friedreich’s Ataxia

  • Facioscapulohumeral muscular dystrophy
  • Limb-girdle types of muscular dystrophy (LGMD) - General
  • • LGMD 1B (also known as Laminopathy)
  • • LGMD 1C (also known as Caveolinopathy)
  • • LGMD 2A (also known as Calpainopathy)
  • • LGMD 2B (also known as Dysferlinopathy)
  • • LGMD 2I
  • Ocular myopathies including ocularopharangeal muscular dystrophy

12. Other (Please Specify)

13. Unspecified