Glossary of Terms

A surgical instrument used in growing children with scoliosis that allows the spine to continue growing while managing the curve until the child is old enough for spinal fusion

An allergic reaction to certain types of anesthesia or overexposure to heat

A CMD Subtype that results from gene defects in the laminin-alpha2 (LAMA2) gene affecting the production of merosin protein in the muscle cell.

A CMD Subtype that results from gene defects in the laminin-alpha2 (LAMA2) gene affecting the production of merosin protein in the muscle cell.

Microcephaly is a condition where a baby's head is much smaller than expected. During pregnancy, a baby's head grows because the baby's brain grows. Microcephaly can occur because a baby's brain has not developed properly during pregnancy or has stopped growing after birth, which results in a smaller head size.

A missense mutation is a genetic change involving the substitution of one base in the DNA for another which results in the substitution of one amino acid in a polypeptide for another. A missense mutation is a “readable” genetic message although its “sense” (its meaning) is changed. This is in contrast to a nonsense mutation which has no meaning except to halt the reading of the genetic message.

A group of atoms bonded together, representing the smallest fundamental unit of a chemical compound that can take part in a chemical reaction.

A monomer is a molecule that can be bonded to other identical molecules to form a polymer.

Mouthpiece ventilation, also known as sip ventilation or sip and puff; a straw-like device used to take supported breaths from a ventilator or BiPAP machine.

Messenger RNA (mRNA) is a single-stranded molecule of RNA that corresponds to the genetic sequence of a gene and is read by a ribosome in the process of synthesizing a protein. RNA, Ribonucleic acid, is a polymeric molecule essential in various biological roles in coding, decoding, regulation and expression of genes.

The biological mechanism for clearning secretions from the lungs.

The free slime of the mucous membrane

A muscle biopsy is a minor surgical procedure done under general or local anesthetic, using a needle or a small incision to remove a small sample of muscle. The procedure may be done to confirm a clinical diagnosis, distinguish between nerve and muscle disorders, identify a metabolic defect of muscle, diagnose diseases of connective tissue and blood vessels, detect muscle inflammation, or rule out muscle disease. Afterwards, there may be minor discomfort and bruising at the biopsy site which usually takes a week to heal fully.

An alteration or change to a gene's coding instructions. Mutations can be pathogenic or benign, or may sometimes be categorized as a Variant of Unkown Significance when pathogenicity is unknown.

A disease of muscle in which muscle fibers do not function properly