Name:
R.I.Wadman
Department Neurology and Neurosurgery
Section: Neuromuscular Diseases
Function:
PhD-student, MD
E-mail:
r.i.wadman@umcutrecht.nl Supervisor:
Prof. dr. L.H. van den Berg
Title research:
Spinal muscular atrophy
Summary research:
Spinal muscular atrophies (SMA) are a group of disorders characterized by weakness caused by loss of motor neurons in the anterior horn cells of the spinal cord, and are classified according to patterns of weakness and specific genetic mutations. Proximal SMA is characterized by weakness of proximal muscle groups and is caused by homozygous deletion of the survival motor neuron 1 (SMN1)-gene. Severity of SMA varies considerably, despite of similar homozygous SMN1 gene defects in all patients. Treatment of these disorders is supportive. Improved insight in the pathogenesis of SMA may help the development of new forms of treatment, and the identification of surrogate markers for clinical trials.
The main objective of this prospective population-based study of patients with proximal SMA in the Netherlands is to register SMA patients in the Netherlands in an SMA-database to study prevalence and severity of SMA types 1-4, to perform genomic profiling studies to elucidate new (complex) molecular pathways that determine disease severity in SMA, and to study the correlation of SMN protein levels in leukocytes and disability.