The ulnar and posterior tibial conduction velocities were measured in 29 children with spinal muscular atrophy, 14 of whom had the servere form of the disease. The ulnar nerve velocity was slow in 12 of the 14 severely affected infants, but normal or fast in 11 of 14 children less severely affected. The corresponding results for the posterior tibial nerve were slow velocities in 11 of 12 infant...

During balancing on a seesaw normal individuals have a mean sway oscillation of 4.3 Hz, which is significantly lower (3.3 Hz) in patients with peroneal muscular atrophy. It is assumed that the oscillations in both cases are generated by spinal stretch reflexes and that the lower frequency in patients with peroneal muscular atrophy is due to their slower nerve conduction velocity. The balancing ...

Objective: Spinal muscular atrophy is a lower motor neuron disease, but other parts of the body could be affected. This study compared bone mineral density with metabolism and physical growth rates in patients diagnosed spinal type 2 3. Material Methods: Twenty-six were included (15 for 11 3). Weights heights measured, standard deviation scores determined, body-mass index was calculated. Motor ...

Spinal and bulbar muscular atrophy is an X-linked motor neuron disease caused by polyglutamine expansion in the androgen receptor. Patients develop slowly progressive proximal muscle weakness, muscle atrophy and fasciculations. Affected individuals often show gynecomastia, testicular atrophy and reduced fertility as a result of mild androgen insensitivity. No effective disease-modifying therapy...

Purpose: This study aims to describe the experiences of parenting children with spinal muscular atrophy.Methods: Participants consisted 11 parents diagnosed atrophy, more than 6 months prior study. Data were collected through one-on-one interviews and between 1 3 conducted per participant, August November 2021. Braun Clarke's thematic analysis was used analyze data.Results: described that exper...

BACKGROUND Progressive scoliosis, pelvic obliquity and increasing reduction of pulmonary function are among the most significant problems for patients with SMA type II and SMA type III once they have lost the ability to walk. The aim of this study was to examine and document the development and natural course of scoliosis in patients with spinal muscular atrophy type II and IIIa. METHODS For ...