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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.
cndr.org 