Frequently Asked Questions
(See also the Explaining webpage)

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What's the difference between Myopathy and Dystrophy
A myopathy is any disease of the muscle (myo=muscle; pathos=disease). A dystrophy is actually a class of myopathy that is characterized by progressive muscle degeneration. Nemaline myopathy is known as a non- dystrophic myopathy because muscle biopsies of patients with dystrophies look different under the microscope and because NM is often non-progressive. It's easy to confuse the word myopathy with dystrophy: both words refer to diseases that affect skeletal muscle, which is the type of muscle that is responsible for movement and force.

What are the symptoms of a poor carbon dioxide reading?
Nightime: sweating, turning frequently, nightmares, frequent waking up.
Morning: Drowsiness, headaches, no appetite, nausea.
Daytime: poor energy levels, poor concentration, require short rests or sleeps, poor appetite.

What is a gastrostomy?
A: This a thin feeding tube attached to the stomach through a small whole in the skin.
Your Health.com
Muscular Dystrophy web page on g-tubes
A web about the g-tube
G-tube.org A website for mailing list FAQs.

What is a tracheostomy?
A: A tube is fitted to the trachea at the throat. This is attached to a ventilator to aid breathing.
A nurses guide to home care.

What happens to a muscle biopsy sample?
Muscular Dystrophy web page on muscle biopsies

What are "low sats"?
This is when the saturation of oxygen in the bloodstream is lower than is reasonably safe. Healthy people would have a saturation of
above 95%. This may drop slightly while asleep. An oximeter will quickly (and painlessly) read your level. 90% or less should be
investigated by a Sleep Study. Also see the next question.

What is a blood gas check for?
A: This is to see if you are retaining the carbon dioxide gas(CO2) that is normally exhaled when you are asleep.
Blood is drawn from the artery in the arm or wrist. A quick test determines the % of oxygen in the blood after it has left the heart.
Symptoms can be: Restless sleeping, morning headaches, tiredness during the day.
CO2 can build up slowly and become very dangerous as the body is slowly poisoned.
Explains the what is and why do it.

What is Malignant Hyperthermia?
A: MH is of concern to people with a myopathy. It is where the body temperature rises to dangerous levels during and/or after anaesthetic.
The surgery team should be reminded of the patient having a neuromuscular disorder.
Web resource

Is it safe to become pregnant if I have NM?
A: Generally yes. But always consult you doctors. And refer them to the papers listed.

Is sweating a lot normal?
Q: My baby has severe NM and sweats profusely. Is this unique to my baby or is this a characteristic of severe NM?
A: This is not unique to your child. Many children and adults with NM perspire a lot, mostly at night. This is just the bodies way of cooling down.