Nemaline Myopathy Support Group


Beginners Guide to Explaining things

Resource Links

The following websites have information worth reading if you are new to nemaline. They are mostly written by professionals using easier to understand terminology. The information may help answer questions you have, or generate new ones to ask your doctor or other medical support professional. I am always interested to hear of other websites to add. If you find one which you feel may be of interest to us or links here that appear broken, then please email me and I will try to find a new link.


Malignant Hyperthermia(MH) is of concern to people with a neuromuscular disorder. MH is where the body temperature rises to dangerous levels during and/or after anesthetic.

When an operation is required, the surgical team should be aware of the patients muscle disorder. Muscle relaxants used as anaesthetic can cause hyperthermia. This is where a reaction to the anaesthetic causes the body temperature to rise. Further reading can be found through links.

Dantrolene is used as a treatment for MH.
The anesthetics succinylcholine and halothane must be avoided as they are known to cause malignant hyperthermia(MH). The anesthesitist should use a "clean technique", which means that the equipment was cleaned of all traces of anesthesia used on a previous patient. They should also have the MH reversal medication, Dantrolene, in the surgery room.

Useful links
Scientific paper about Malignant Hyperthermia
Coping with Anesthesia
CCD: Malignant Hyperthermia

Bio Banks

A BioBank is an establishment where you can donate blood and body tissue samples for scientists to use for their research. There are BioBanks in many countries around Europe, plus one in Australia and one in USA.

Blood gases

What is a blood gas check for?
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.

Useful links
Blood gas checks (Explains the what is and why do it)
Oxygen is NOT for Hypoventilationin Neuromuscular Disease (Good explanation. Well worth reading)


What is a tracheostomy?
A tube is fitted to the trachea at the throat. This is attached to a ventilator to aid breathing.

Medical contacts
Dr. John R. Bach (New Jersey, USA)
A video clip introducing an expert in non-invasive ventilation for people with neuromuscular disorders.

Prof. Anita Simonds (London, England)
A leading expert in sleep study and respiratory medicine. Has given two talks at Nemaline Myopathy Conferences.

Useful links
Breathe Easy (part 1 of 2 - Options offered for respiratory care)
A Breath of Fresh Air (part 2 of 2 - Respiratory care can improve quality of life)
Tracheostomy (A nurses guide to home care)
RSV Explains many causes of lower respiratory infections
RSV (Respiratory Syncytial Virus (RSV) is the leading cause of lower respiratory tract infections in infants and young children)
Vent Users Support Page (Many useful links)
Sleepnet (Tips for healthy sleep)

Carbon Dioxide (CO2)

A nurses explanation.

Too much carbon dioxide in the blood stream is a dangerous thing to have. Normally you would exhale the CO2 while breathing out. But some people have difficulty doing this. Especially while asleep. One sign of CO2 retention is waking up with headaches. Another is feeling very tired during the day, to the point where you may fall asleep. Below is an edited email from a nurse, explanation why and how the CO2 level is checked. It has been explained to me that retaining CO2 is one of the main problems with NM. So I thought i would try and shed a bit of light on the CO2 thing. The CO2 that is monitored for blood gases is the amount of CO2 in the blood at that time. The most accurate way of measuring it is by arterial sampling, however that is normally only done in ITU's or emergency situations. The more common way of testing blood gases is the heal prick or finger prick which measures the capillary blood. Obviously the level of CO2 in the capillaries is slightly different as the blood is further away from the lungs and is being deoxygenated as the cells take up the oxygen and send the CO2 back to the lungs to be expelled in the exhaled air. The range of values is slightly different for the two different types of blood and again if you were to take a venous sample. Blood gases also measure the amount of oxygen, bicarb, base excess, heamaglobin and basic electrolytes. Which is why they are often used in a hospital as they give a better all round picture so that the treatment can be fine tuned to get the balance right. I hope that makes sense.

Giving supplemental oxygen to a patient with low saturation % levels is not usually the right thing to do. This will only hide the real reason why the CO2 level is high in the blood, and therefore oxygen sats are low.

Cough Assist

This machine is used to help clear pulmonary secretions when a patient has insufficient power to cough unaided. It is made by Philips Respironics.

Several video clips are available on Dr. John R. Bach explains about the CoughAssist machine:
Cincinnati Childrens Hospital
The newer Cough Assist T70 model

Useful links
Chartered Society of Physiotherapy


Swallowing is often a problem in nemaline myopathy because of weak muscles in the throat. Sometimes it means the person is unable to even swallow their own saliva, while other times it is an issue with swallowing food. The second of these can be overcome by feeding directly to the stomach via tube or button.

Gastronomy tube or button, aka g-tube, button. A nasal gastric-tube(ng-tube) is a tube fed down from the nose to the stomach. Search for video clips on Youtube.


For more recent items of news, see my page Gene Express.

Euro Gene Guide is a website resource for patients, families and professionals seeking information on genetic councilling, testing and research across Europe.

Genetic Counceling
See details on Dr. Beggs page for contacting a Genetic Councillor in Boston, USA.

GeneDx in USA, can test for actin mutations. Results will be available in approximately 4-6 weeks. Anyone who might be interested in obtaining this test should discuss it with their doctor. Your doctor is responsible for ordering the test to GeneDx, just like any routine test is ordered.

Buying a genetic test in UK

See also, for information about the well established EuroBioBank. BioBanks are also available in Australia and USA.


A Teachers Guide to Neuromuscular Disease. A downloadable booklet to pass to anyone interested in learning about muscle disorders.

English version: Download a printable .pdf of this entire booklet.

Para el folleto en español: Descargar el folleto en formato PDF para imprimir

Muscle Biopsy

An explanation of muscle biopsies and what happens to them.

What happens to a muscle biopsy sample?

A simple explanation of the two ways to do a muscle biopsy.


Useful links (Good details and links to other sites too) (Lots of useful links)
Infantile scoliosis (Scoliosis Research Society) (Manufacturers website for the Boston Brace)
Spine Corporation (About the VEPTR rods)
New magnetic rods (A Youtube video by Dr. James O. Sanders)

Sleep Aponea

Epworth Sleepiness Score

Social Care

Social Security Administration (Benefits for children with disabilities in USA).
Social Security Disability Programs (USA) How to apply for Social Security Disabilty Benefits.


There are three types of bi-level ventilator: Cpap, Bipap, Vpap. All do a very similar job, but they are not for 24/7 full-time use. These machines are only designed to be used while the patient is asleep or perhaps a short period of rest. See right hand panel for a parents explanation.

BiPAP: (bi)-level (p)ositive (a)irway (p)ressure (BiPAP is actually a name registered to Philips Respironics)
VPAP: (v)variable (p)ositive (a)irway (p)ressure These are manufactured by Resmed Inc.(Australia).
CPAP: (c)continuous (p)ositive (a)irway (p)ressure These are not usually recommended for people with nemaline myopathy. See below.

Hello David,
VPAP and BiPAP are both bilevel ventilators. They may feel slightly different but are basically doing the same thing and support the breathing. CPAP is not a ventilator, just constant positive pressure in inspiration and expiration which does not support breathing much. CPAP is mainly used for sleep apnoea not breathing problems in muscle disorders, as does not usually support weak breathing muscles sufficiently.
Prof. A. Simonds
Royal Brompton & Harefield Hospital, London

The BiPAP®

The BiPAP is a (bi)-level device which assists with (p)ositive (a)irway (p)ressure to help one breathe (in many cases when one is sleeping). We rely on our diaphragm to breathe when sleeping, but when you have weak muscles, you do not have the capacity to inhale enough air into the lungs which can cause you to retain carbon dioxide (CO2). When your CO2 levels are high, you cannot breathe as it chokes out the oxygen. This may cause you to go into respiratory distress/failure because of the inability for you to have a good exchange between oxygen and the carbon dioxide. Kirsty has had several sleep studies which determined that without a BiPAP her oxygen saturation levels are dangerously low. She also had arterial blood gases done which indicated she was retaining high levels of CO2. To continue without assistance from a BiPAP, she would be potentially starving her brain of oxygen. She was working extremely hard to breathe and this was tiring her out. She had no energy reserve left for eating (another chore requiring energy) after using it up to breathe which was a more important task. She needed to have a g-tube because she was not able to gain weight in over a year. In any case, there are probably others out there who are more versed than I with respect to the BiPAP, and I may not have explained it properly, but this is why Kirsty has it. It just helps her to breathe without having to expend the energy and when she wakes up in the morning she is now refreshed and not lethargic and sluggish as she did prior to having the BiPAP. She is now gaining weight and is getting stronger and I attribute this to the fact that she is using the BiPAP. Please consult your doctor for advice if you think you or your child would benefit. BiPAP is a registered product manufactured by Respironics Inc.

Plant a tree for NMSG


Purchase a tree to dedicate to anyone with NM and help us raise funds for our next convention.

Planting a tree is a great way to mark an occasion or to remember a loved one. I am offering people the opportunity to plant a tree in celebration of a family member or friend with nemaline myopathy and at the same time raise funds for the Nemaline Myopathy Support Group.
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