Limb Girdle Muscular Dystrophy


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Includes: 

  • Acid Maltase Deficiency/Pompe Disease
  • Emery Dreifuss Muscular Dystrophy
  • Congenital Muscular Dystrophies (Fukayama Muscular Dystrophy, Muscle-eye-brain Disease/Walker-Warburg Syndrome)
  • Distal myophathy
  • Congenital Myopathies (Bethlem/Ullrich, Central Core Disease, Congential Fibre Type Disproportion, Desmin Storage, Minicore, Multicore, Myoshi, Myotubular, Nemaline/Nemaline Rod/Centronuclear, Reducing body)
  • Myofibrillar myopathies
  • Scapuloperoneal Muscular Atrophy

The CNDR collects the following information on LGMD patients:

Diagnosis:

  • clinical profile
  • presenting phenotype
  • family history
  • genetic results
  • dry blood spot test
  • age at diagnosis
  • age at symptom onset
  • symptom onset
  • EMG
  • muscle biopsy
  • MRI

Clinical Features:

  • location of weakness
  • current motor function
  • best lifetime motor function
  • muscle aches/pains
  • creatine kinase levels
  • facial weakness
  • dysphagia
  • ptosis
  • ophthalmopleia
  • winged scapula
  • ocular myotonia, percussion myotonia, and rip myotonia
  • hearing loss
  • contractures
  • scoliosis
  • neuropathy
  • bone mineral density
  • heart condition, ECG, and Echocardiogarm
  • pulmonary function test
  • sleep study

Interventions:

  • mobility aids
  • scoliosis surgery
  • invasive and non-invasive ventilation
  • myomectomy surgery
  • feeding tube
  • immunosuppressive therapy, annual flu vaccine, and pneumococcal vaccine
  • statin use

Clinical trial participation     

Social data: Access to services

For a detailed list of data items collected, please see the CNDR_LGMD PDF.