PatientCrossroads CMD


Glossary of Terms Related to Congenital Muscle Disease

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Term Definition

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.

Noninvasive Ventilation

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.

Nonsense Mutation (premature stop codon)

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.

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