Motor Unit Number Index (MUNIX) of hand muscles is a disease biomarker for adult spinal muscular atrophy

5q spinal muscular atrophy (SMA) is a monogenetic, autosomal-recessive, lower motoneuron disease caused by deletion or mutation of SMN1 (survival of motoneuron 1) which results in reduced expression of full-length SMN protein. Although no systematic data exist on treatment effects in adult SMA patients, the antisense-oligonucleotide Nusinersen was recently approved by the FDA and EMA as a disease modifying drug for SMA patients, including adults (Mercuri et al., 2018). As only limited data are available on adult SMA and because adult SMA include clinical stages from slightly to severely affected, reliable determination of disease progression, definition of treatment goals and establishment of suitable disease (progression) biomarkers are needed for a comprehensive high quality health care.

from Physiology via xlomafota13 on Inoreader https://ift.tt/2R9ZkY9
via IFTTT