Glossary of Terms

Also known as MTM or XLMTM; a neuromuscular condition caused by defects or deficiencies in the protein myotubularin, coded by the MTM1 gene.

An antioxidant drug currently being tested in clinical trials to slow progression of some types of CMD

An antioxidant drug currently being tested in clinical trials to slow progression of some types of CMD

Also called rod myopathy or nemaline rod myopathy; a congenital, hereditary neuromuscular disorder caused by a variety of genetic defects, each affecting one of the filament proteins required for muscle tone and contraction.

Nuclear envelope transmembrane (NET) proteins are defined as preferentially INM-localized proteins, and they contain several transmembrane regions. The INM proteins construct the nuclear lamina together with the nuclear lamins.

A physician trained to specialize in diseases affecting the nervous system. These diseases include the muscular dystrophies, Lou Gehrigs (ALS), Parkinsons, dementia, stroke and neuropathies. For the first time, this year, the American Academy of Psychiatrists and Neurologists is offering special board certification in the muscle diseases. This is a voluntary certification and would probably indicate a special interest on the part of that physician to pursue further certification. Because the CMD’s are rare diseases, it is possible that your local neurologist will not have seen a child or adult with CMD before. Especially in the early stages of diagnosis, it is important to find a knowledgeable neurologist to guide testing and diagnosis. Contacting the MDA, can be a resource to find a neurologist with expertise in CMD.

A broad term that encompasses many diseases that impair muscle function

A device implanted into the stomach or inserted via nose or mouth to the stomach for providing food, supplements or medication.

Noninvasive Ventilation is the delivery of ventilatory support without the need for an invasive artificial airway. Such ventilation has a role in the management of acute or chronic respiratory failure in many patients and may have a role for some patients with heart failure. Noninvasive ventilation can often eliminate the need for intubation or tracheostomy and preserve normal swallowing, speech, and cough mechanisms. There are several types of noninvasive ventilation; including negative pressure ventilation, bilevel positive airway pressure (BIPAP or bilevel ventilator) device, or a continuous positive airway pressure (CPAP) device. The use of noninvasive positive-pressure ventilation (NPPV) in acute hospital settings and at home has been steadily increasing.

Noninvasive ventilation is the delivery of ventilatory support without the need for an invasive artificial airway. Such ventilation has a role in the management of acute or chronic respiratory failure in many patients and may have a role for some patients with heart failure. Noninvasive ventilation can often eliminate the need for intubation or tracheostomy and preserve normal swallowing, speech, and cough mechanisms. There are several types of noninvasive ventilation; including negative pressure ventilation, bilevel positive airway pressure (BIPAP or bilevel ventilator) device, or a continuous positive airway pressure (CPAP) device. The use of noninvasive positive-pressure ventilation (NPPV) in acute hospital settings and at home has been steadily increasing.

A nonsense mutation refers to a point mutation that changes a genetic sequence into a 3 letter code for a stop sign. If a stop sign arises in the middle of a gene because of a mutation, then when the gene encodes first mRNA and then a protein, a truncated or shortened protein will be made. Most of these shortened proteins are not functional and are destroyed by the cell.

Negative Pressure Ventilation/Iron Lung

Nuclear envelope transmembrane (NET) proteins are defined as preferentially INM-localized proteins, and they contain several transmembrane regions. The INM proteins construct the nuclear lamina together with the nuclear lamins.

The nucleoplasm is a type of protoplasm, and is enveloped by the nuclear envelope. The nucleoplasm includes the chromosomes and nucleolus.

A nucleotide is the basic building block of nucleic acids. RNA and DNA are polymers made of long chains of nucleotides. A nucleotide consists of a sugar molecule (either ribose in RNA or deoxyribose in DNA) attached to a phosphate group and a nitrogen-containing base.