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Mitochondrial Myopathy

The mitochondrial myopathies are a group of syndromes characterized by muscle weakness, lack of energy, and gastrointestinal dysfunction. Mitochondrial myopathies are caused by genetic defects of the mitochondria of the cell. Mitochondria are intracellular bodies responsible for producing energy and are the only cellular structure to possess DNA that is distinct from that of the nuclear DNA. The inheritance of mitochondrial DNA is almost exclusively maternal.

While there are several distinct syndromes associated with faulty mitochondria, common features of most mitochondrial myopathies include ophthalmic degeneration, ataxia, peripheral neuropathy, developmental delays, hypotonia, episodic vomiting, gastrointestinal reflux, seizures, and stroke-like episodes with associated hemiparesis.

Airway clearance indications associated with mitochondrial myopathy include:

• Hypotonia: Inadequate control of respiratory muscles due to denervation or hypotonia can impair the normal cough reflex and, as a result, interfere with the ability to clear aspirated material and pulmonary secretions from the airways.
• Seizure activity: Seizures carry a high risk for aspiration of saliva and gastric contents. Because saliva and gastric contents contain bacteria, aspiration introduces microorganisms into normally sterile airways.
• Gastroesophageal reflux: Gastrointestinal defects are common in mitochondrial myopathy, and gastroesophageal reflux (GER) with consequent aspiration of gastric contents is recognized as a major factor in respiratory pathology.
• Retained secretions: Ineffective clearance of pulmonary secretions can lead to secretion retention and pooling. Retained secretions are an ideal cultural medium for bacterial pathogens. Consequent infections produce still more mucus, initiating a vicious cycle of mucus obstruction, recurrent bouts with pneumonia, bacterial colonization, and progressive pulmonary compromise.

Aggressive bronchial hygiene, including daily Airway Clearance Therapy, is an essential component in the management of patients with pulmonary complications from mitochondrial myopathy. Conscientious attention to daily secretion clearance may prevent or minimize the pulmonary complications associated with this disorder.

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Sources

Cohen, BD. Mitochondrial cytopathies: Diagnosis and principles of management. Publication of the United Mitochondrial Disease Foundation. 1997. Fauci AS, Braunwald E, Isselbacher KJ, et al. The mitochondrial myopathies. In: Harrison's Principles of Internal Medicine. 14^th ed. New York, NY: McGraw-Hill Book Co; 1998: 2479-2480.

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