Nav: Home

Affection of the respiratory muscles in combined complex I and IV deficiency

April 14, 2017

Mitochondrial disorders (MIDs) frequently manifest as myopathy. Myopathy may also involve the respiratory muscles. Affection of the respiratory muscles may progress to respiratory insufficiency, requiring non-invasive or invasive ventilation. So far, muscular respiratory insufficiency has been described in patients carrying mutations in the tRNA(Leu), tRNA(Val), tRNA(Lys), TWINKLE, SCO, or POLG1 genes respectively or mtDNA deletions. We present a 45 years old male MID due to a combined complex I+IV defect of the respiratory chain. Onset of clinical manifestations was at age 6y with double vision. Since age 26y bilateral ptosis became apparent. He additionally developed ophthalmoparesis since age 27y. Head drop started at age 40y. At age 45y the patient was admitted for hypercapnia due to acute, muscular respiratory insufficiency. He required intubation and mechanical ventilation and since he could not be veined off, a tracheotomy was placed and he was transferred for long-term mechanical ventilation.

Since MIDs frequently manifest as mitochondrial multiorgan disorder syndromes (MIMODSs), the patient was investigated for affection of organs other than the skeletal muscle. Work-up for affection of the peripheral nerves revealed axonal polyneuropathy, work-up for cardiac involvement revealed intermittent AV-block II, and work-up for cerebral involvement revealed generalised poly-spike waves in the absence of seizures. Respiratory insufficiency due to affection of the central nervous system was excluded. The family history was positive for diabetes (grandmother from the mother's side) and cardiac disease (mother).

The case shows that a MID due to a combined complex I+IV defect may manifest in the extra-ocular muscles, the limb muscles, the axial muscles, but also the respiratory muscles. Additionally, peripheral nerves, the brain, and the heart may be involved. Muscular respiratory insufficiency may require long-term mechanical ventilation. These patients should be confronted with such a prognosis beforehand. Particularly patients with progressive external ophthalmoplegia seem to be prone to muscular respiratory insufficiency.
-end-
For more information, please visit https://benthamopen.com/ABSTRACT/TONEUJ-11-1

Reference: Finsterer, J.; (2017). Affection of the Respiratory Muscles in Combined Complex I and IV Deficiency. The Open Neurology Journal., DOI: 10.2174/1874205X01711010001

Bentham Science Publishers

Related Mechanical Ventilation Articles:

A mechanical trigger for toxic tumor therapy
Cell-killing chemotherapies are designed to shrink cancerous tumors by accumulating in their ill-formed blood and lymph vessels, delivering a toxic dose to the cancer cells.
Addition of in-home noninvasive ventilation to oxygen therapy improves outcomes following COPD exacerbation
Among patients with an excess of carbon dioxide in their blood (persistent hypercapnia) following a flare-up (acute exacerbation) of chronic obstructive pulmonary disease (COPD), in-home use of a mask and machine to support breathing in addition to home oxygen therapy prolonged the time to hospital readmission or death, according to a study published by JAMA.
Microdevice provides novel method of measuring cell mechanical properties
Researchers from Kumamoto University in Japan have developed a new method of measuring the Young's modulus of a cell.
Sealing properties and its influence factors of spherical mechanical seal
The spherical mechanical seal which can automatically adjust the contact state of sealing surfaces is proposed to replace the frequently used plane mechanical seal in order to solve the problems that when a marine stern shaft is bent with shafting misalignment and stern bearing wear factors, etc., the sealing properties of a plane mechanical seal is declined with the increase of both contact pressure and temperature of sealing surface.
Where cells go: Mechanical and chemical cues collaborate to guide them
Living cells respond to biochemical signals by moving toward those at higher concentration, a process carefully mapped out by biologists over the past several decades.
More Mechanical Ventilation News and Mechanical Ventilation Current Events

Best Science Podcasts 2019

We have hand picked the best science podcasts for 2019. Sit back and enjoy new science podcasts updated daily from your favorite science news services and scientists.
Now Playing: TED Radio Hour

Anthropomorphic
Do animals grieve? Do they have language or consciousness? For a long time, scientists resisted the urge to look for human qualities in animals. This hour, TED speakers explore how that is changing. Guests include biological anthropologist Barbara King, dolphin researcher Denise Herzing, primatologist Frans de Waal, and ecologist Carl Safina.
Now Playing: Science for the People

#534 Bacteria are Coming for Your OJ
What makes breakfast, breakfast? Well, according to every movie and TV show we've ever seen, a big glass of orange juice is basically required. But our morning grapefruit might be in danger. Why? Citrus greening, a bacteria carried by a bug, has infected 90% of the citrus groves in Florida. It's coming for your OJ. We'll talk with University of Maryland plant virologist Anne Simon about ways to stop the citrus killer, and with science writer and journalist Maryn McKenna about why throwing antibiotics at the problem is probably not the solution. Related links: A Review of the Citrus Greening...