WebSpinal muscular atrophy (SMA) is a relatively common autosomal recessive neuromuscular disorder, characterised by progressive degeneration of spinal cord and bulbar motor neurons. It is caused by survival motor neuron (SMN) protein deficiency, due to homozygous loss of function of the SMN1 gene. Due to the effects of genetic modifiers, SMA displays … WebOct 31, 2024 · Patients. Treatment of SMA is centralized in the Netherlands at the SMA center in the University Medical Center Utrecht (UMCU). We therefore enrolled all patients with SMA who fulfilled the Dutch reimbursement criteria (i.e. patients younger than 9.5 years at start of treatment and 2 or 3 SMN2 copies) between May 2024 and July 2024. All …
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