Background: Promising genetic treatments targeting the molecular defect of severe early-
onset genetic conditions are expected to dramatically improve patients' quality of life and …

Background: The application of molecular methods has enhanced and enlarged the
diagnostics of spinal muscular atrophy (SMA) and its carriership. It allows for reliable …

In spinal muscular atrophy (SMA), degeneration of motor neurons causes progressive
muscular weakness, which is caused by homozygous deletion of the SMN1 gene. Available …

Background Spinal muscular atrophy (SMA) is a common autosomal recessive
neuromuscular disorder with the frequency of carriers in a number of ethnical groups …

Objective Provide a summary of Spinal Muscular Atrophy (SMA) incidence and prevalence
worldwide. Methods A systematic review of incidence and prevalence was conducted to …

Spinal muscular atrophy is the second most frequent autosomal-recessive disorder in
Europeans. There are no published epidemiological data on SMA in Estonia and other …

Background Spinal muscular atrophy (SMA) is an autosomal recessive disease caused by
mutations and deletions in SMN1 at exon 7. The carrier frequency for SMN1 mutations …

With a prevalence of approximately 1/10 000, and a carrier frequency of 1/40–1/60 the
proximal spinal muscular atrophies (SMAs) are among the most frequent autosomal …

Background: Insufficient amounts of survival motor neuron protein is leading to one of the
most disabling neuromuscular diseases, spinal muscular atrophy (SMA). Before the current …

Background: Spinal muscular atrophy (SMA) linked to chromosome 5q is an inherited
progressive neuromuscular disorder with a narrow therapeutic window for optimal treatment …