Practical information for women with AMN (Adrenomyeloneuropathy)

This booklet is for you if you are a woman who has been diagnosed with AMN (Adrenomyeloneuropathy). AMN is a rare inherited disorder that affects about 1 in 25,000 people.

AMN in women is very varied, and it is not possible to predict how your AMN symptoms will progress. There is currently no cure for AMN, although research into new treatments is continuing. However, treatments are available that may help with symptoms, and there are many things you can do to help you live with this condition.

AMN is one form of a disorder called ALD (Adrenoleukodystrophy / Adrenomyeloneuropathy). AMN affects men and women differently: in men, the effects usually begin earlier in life, and progress more quickly. We have produced a separate booklet for men with AMN.

Alex - The Leukodystrophy Charity

Alex TLC is Britain’s leading charity for ALD and AMN. It is run by people who have been personally affected by these conditions, either themselves or in their families, and are here to help you. Alex TLC provides practical, emotional and financial support for all those affected by ALD and AMN. We also have a worldwide contact list of people who are willing to chat about all aspects of living with AMN.

To get in touch please contact Alex, The Leukodystrophy Charity (Alex TLC) on 020 7701 4388 or email info@alextlc.org. Or visit our website at www.alextlc.org

In researching this booklet, we have spoken to many women who are living with AMN, and we have put together the information they wish they had had when they were diagnosed. Of course, there is no right or wrong way of dealing with AMN, but we hope the information will be useful for you. The medical information has been compiled from reputable sources and checked by medical experts in AMN. We also have a booklet for female carriers of ALD which you can find here.

What causes AMN?

AMN is caused by a genetic fault – scientists and doctors refer to this as a genetic mutation Affected people are unable to process natural molecules called very long chain fatty acids (VLCFAs). Instead of being broken down, VLCFAs accumulate in the body and damage the nerves. The gene at fault is called ABCD1. For simplicity we will refer to the faulty version as the ‘ALD/AMN gene’.

In AMN, there is damage to the nerve cells that control the muscles. These nerves run down your spinal cord to your arms and legs. The nerves are coated with a fatty substance called myelin, which allows nerve signals to be transmitted quickly and accurately. In AMN these long nerve cells (called axons) are damaged and can die back. Myelin is also lost. As a result, signals from the brain do not reach the muscles in the way they should, and your body’s functioning is affected.

The nerves supplying the legs are the most prone to damage.  AMN can also affect the nerves to the bladder, bowel and sexual organs.

The ALD gene affects men and women differently. The reasons for this are explained in the section on genetics.

In boys and men with the ALD gene, the nerves in the brain can be affected. This can lead to cerebral ALD (a severe degenerative disease that usually affects young boys). Males also often develop adrenal insufficiency (also called Addison’s disease). This is a potentially dangerous condition where the adrenal glands do not produce enough of some essential hormones. It is treated by taking replacement hormone tablets. In women, the development of either cerebral leukodystrophy or adrenal insufficiency is extremely rare –and has only been described in a very few isolated cases.

Previously, women with the ALD/AMN gene mutation were sometimes called ‘carriers’, because they can pass the gene to their children but were thought to be unaffected themselves. However, we now know that the faulty gene does cause effects in many women.

There are no exact figures, but it is thought that about 80% of women with the gene will develop some symptoms of AMN during their lifetime. Symptoms usually start around the ages of 40 to 50 years, but can begin earlier or later.

Symptoms of AMN usually include stiffness, weakness and pain in the legs. This starts gradually and can progress over time. The medical term for this is ‘progressive spastic paraparesis’. Most people also experience problems with their feet. Damage to the nerves supplying the legs affects the ability to balance, so unsteadiness and falls are common.

The nerves to the bladder, bowel and sexual organs can also be affected, which can result in urinary and bowel problems.

In some women the symptoms of AMN are very mild, and progress very slowly. Others are affected more severely. In rare cases, mobility can deteriorate to the point where the woman needs to use a wheelchair. It’s not possible to predict in advance how your AMN symptoms will progress.

There are currently no drugs that can repair nerves or stop them from dying back, although research into treatments continues. However, drugs can help alleviate some of the symptoms of AMN, such as stiffness. These drugs seem to work for some people, but not for others.

Discuss with your consultant the best treatments to help relieve your symptoms. You can be put in touch with others by contacting our support services.

There are lots of things you and your health team can do to help you live with AMN more easily. These are described later in the booklet.

Your GP should be able to refer you to an AMN specialist. They will ask you about AMN symptoms, examine you and do some blood tests. If you do go on to develop symptoms, your specialist will recommend treatments to help with these. You can also discuss options for pregnancy. If your GP is unsure, we can help to find a local specialist for you.

Consult your doctor if you have any bothersome symptoms such as urinary and bowel problems – there are medications and treatments that can help. Medications can also help with muscle tightness and painful or restless legs. Ask to be referred to physiotherapy and occupational therapy if you have problems with balance or walking.

ALD affects people in different ways.

For reasons we don’t understand, the ALD gene affects people in different ways. Some males develop cerebral ALD as boys. Others have no symptoms in childhood, then develop AMN as adults. Some males develop adrenal failure (Addison’s disease) in addition to cerebral ALD or AMN.

About 80% of females with the gene will develop some AMN symptoms later in life. These are usually mild. (In extremely rare cases women are diagnosed with adrenal insufficiency. Females do not suffer from cerebral ALD) please remove text in brackets and add for most affected women, symptoms are relatively mild. Women with the gene virtually never develop cerebral ALD or adrenal insufficiency – this has only ever been described in a very few isolated cases where the affected women were not tested for other causes – which means it is impossible to know whether or not they might have had a second (co-incidental) cause for their symptoms.

Lorenzo’s oil is a blend of four parts glycerol trioelate oil and one-part glycerol trierucate

oil. It was developed to try and correct the biochemical abnormalities in the blood that are associated with AMN and ALD, i.e. raised levels of very long chain fatty acids (VLCFA).

Although treatment with Lorenzo’s oil, along with a special diet, does correct the blood abnormalities, it unfortunately has little clinical effect on the disease. Clinical research has shown no evidence of benefit from Lorenzo’s oil in AMN, and it is therefore not recommended as a treatment.

After being diagnosed with AMN, you will be seen regularly by a specialist who will monitor your condition and any deterioration. They may arrange tests to look at the function of your nerves and spinal cord. Although you may have an MRI scan done as part of the initial tests to make the diagnosis, the brain is not affected in women with AMN and regular brain scans are not required.

Your specialist will advise you about treatment options for your symptoms.

If this is the first instance of AMN or ALD in your family, it is very important that you are offered genetic counselling to talk about testing for family members, especially if there are any young boys, or young women planning a pregnancy, in the family. Click here for information on genetic testing.

Getting diagnosed with AMN is likely to come as a big shock. It’s natural to feel confused, upset or angry when you get news like this, and worried about what the future may hold. It helps to talk about your feelings rather than face them in isolation. Alex TLC can offer support in many different ways and can put you in contact with others in the same situation. Click here for our support services.

Your GP should be able to arrange counselling for you, if you feel you need help in dealing with your diagnosis, please do not suffer in silence as help is available.

This section contains information and advice on how to live as well as possible with AMN, based on the experience of women who have the condition.

Stay healthy

Try and stay as healthy as you can in every way. Try not to get overweight, as this will put added strain on your legs and impede your mobility. Try and eat a good, nutritious diet that’s high in vegetables and fruit and low in sugary, fatty and highly processed foods. That doesn’t mean denying yourself treats, but do try to eat sensibly.

Exercise and flexibility

We would advise anyone with AMN to develop an exercise and stretching programme, following the advice of a (neuro)physiotherapist. The more you can keep your body in good condition, the better you will be able to cope with the problems AMN will cause. As well as the physical benefits, exercise gives you a psychological boost too.

Even if you have never exercised before, it’s not too late to start. Always start slowly and consult your doctor before beginning any new exercise.

  • Everyday things like taking a brisk walk most days, climbing stairs and cycling will help keep you in shape.
  • Your local gym or leisure centre should be able to advise on exercise programmes for people with mobility problems to strengthen core muscles. Water-based exercise like Aquafit or swimming can be especially effective. Sometimes your GP can refer you to these sessions.
  • Pilates is a physical fitness system that works on your core muscles. Walking awkwardly puts a lot of stress on your back. With a condition like AMN, the more you can strengthen these muscles, the better. Some people also find yoga is helpful.

It’s important to work on your flexibility. The biggest problem with AMN is often that your leg muscles become spastic, which means they are stimulated by your nervous system into behaving as if they are under tension all the time. Physiotherapists call this ‘excess tone’.

  • Stiffness in the legs is usually worst when you get up in the morning. This is because your nervous system has been stimulating your leg muscles during the night.
  • It helps to develop a stretching programme, with advice from your physiotherapist, and carry it out regularly. Yoga can also be helpful.
  • Some people with AMN recommend a type of massage bed that combines cycloidal massage and infra-red treatment to help relieve the effects of spasticity (www.cyclo-ssage.com).

Balance and foot problems

AMN affects your balance, and you may have problems with falling over.

Most people with AMN have problems with their feet. One problem is that you are constantly clawing with your toes to keep your balance. Also, because the nerves to your feet are damaged you may not be fully aware of pain or heat, putting you at risk of damaging your feet.

If you have foot problems, you should be referred to an orthotics department. The orthotist can make customised inserts for your shoes to assist you. Even small things like inserts can really help.

Walking aids

  • Some people find simple aids such as a walking stick are enough to begin with, but you may need further help later on.
  • It can be advisable to use a stick when you first begin to experience walking difficulties, as walking awkwardly can put undue pressure on your joints. The support given by a stick can reduce this.
  • Some people with more severe AMN use functional electrical stimulation (FES). A piece of equipment strapped to your leg gives out electrical pulses that help your foot to lift as you walk. It is now available from some NHS clinics. Ask your doctor about getting referred for assessment to see if this could be for you.
  • A walking aid called Musmate may be useful for some people. Find details at musmate.co.uk. Ask your physiotherapist which device(s) may be most suitable for you.

Incontinence is a problem for anyone with a neurological condition affecting the spinal cord and pelvic nerves. Unfortunately, people with AMN often suffer from bowel and urinary problems. Urinary urgency (the need to rush to the loo straight away) is common, and sometimes people do not make it in time. Constipation is very common.

It is one of those sensitive areas that people find it difficult to talk about, but treatments are available. It is important to discuss these issues with your doctor, who can refer you to a urologist or continence advisor if necessary. There are several treatments and medications which can help with urinary problems and make a huge difference to your quality of life.

For a small fee you can get a RADAR key, which lets you use accessible toilets for people with disabilities. There are over 9000 of these in the UK; they are kept locked to prevent vandalism and misuse. See www.radarkey.org. Alex TLC can also provide you with a card explaining that you have a condition causing urgent need to use a toilet. Most shops and other premises will allow you to use their facilities upon production of the card.

If you have been diagnosed with AMN, you have the ALD gene. There is a 50-50 chance of passing the gene on to any children you have. The section on genetic testing explains this in more detail.

Genetic testing

If this is the first instance of ALD/AMN in your family, you should be offered genetic counselling. Your GP or specialist can put you in touch with a genetic counsellor. The counsellor will ask about your family and identify anyone who is at risk of having the gene. We also have a booklet for female carriers of ALD which you can find here.

  • If you have young sons, we recommend that they should be tested for the gene as soon as possible. Boys with the gene are at risk of cerebral ALD, a devastating and fatal condition. It can be treated, but only if it is caught before obvious symptoms appear. Knowing about the gene means the boy(s) can have regular MRI scans, which will put them in the best possible position to have successful treatment if the need arises. Boys with the gene also need regular checks for adrenal insufficiency.
  • It is also important to consider urgent testing if there are other young boys in the family, such as grandsons or nephews. Your brothers and sisters, and any adult children that you have, should all be offered genetic counselling. The genetic counsellor will talk them through the implications of testing so that they can make an informed choice about whether to be tested.
  • Young females are not at immediate risk of developing symptoms and are not normally offered testing until they reach the age of 16, when they are able to understand the implications.

If you want to have children in the future, we strongly recommend that you talk to a genetic counsellor about your options. There are fertility treatments that can ensure that any children you have are free from the gene. However, these are not always funded by the NHS.

There is more information in our leaflet for Female Carriers, or you can look at the Guy’s and St Thomas’s hospital website at  www.guysandstthomas.nhs.uk/our-services/pgd/overview.aspx. Alex TLC knows several families who have had children using fertility treatments and are willing to talk about their experiences.

There are a few important things to know about the ALD gene:

It affects males and females in different ways

It affects individuals in different ways

The chances of the gene being passed on to an affected person’s sons and daughters are known.

ALD is a X-linked disorder

The ALD gene sits on the X-chromosome. Women have two X-chromosomes, whereas men have an X and a Y. We inherit one of these chromosomes from each parent.

A female who inherits an X chromosome with the ALD gene also has a normal X-chromosome from her other parent. This partially compensates for the genetic fault, so females do not experience the most severe forms of ALD. Instead, they are said to be ‘carriers’. (Because the gene is so rare, it is extremely unlikely that a female would inherit it from both parents.)

Males who have the gene don’t have a normal X-chromosome to compensate, so they are at risk of being severely affected.

How ALD is passed on

The diagrams below show how the ALD gene is passed on. X-chromosomes with the ALD gene are shown in red.

 From women

When a woman with the ALD gene has a daughter, there is a 50% chance the daughter will be a carrier and a 50% chance she will be unaffected (i.e. free of the gene).

When the woman has a son, there is a 50% chance that he will have the gene and be at risk of severe effects.

Because fathers don’t pass their X-chromosome to their sons, males have usually inherited the gene from their mother.

In rare cases, instead of being inherited, the gene mutation happens while the embryo is developing. This is called a ‘de novo’ mutation.

From men

If a man with the gene has children, all of his sons will be free of the gene, because sons always get their father’s Y-chromosome, not the X.

All of his daughters will be carriers, because fathers always pass their only X-chromosome to their daughters.

ALD affects people in different ways

For reasons we don’t understand, the ALD gene affects people in different ways. Some males develop cerebral ALD as boys. Others have no symptoms in childhood, then develop AMN as adults. Some males develop adrenal failure (Addison’s disease) in addition to cerebral ALD or AMN.

About 80% of females with the gene will develop some AMN symptoms later in life. These are usually mild. In extremely rare cases women are diagnosed with adrenal insufficiency. Females do not suffer from cerebral ALD.

You can get in touch with others in a similar situation and receive practical information, support and advice from us at Alex TLC. We also run an annual event which brings together families and individuals suffering from all aspects of living with the ALD gene to share experiences and learn about innovations in treatment and research.

Alex TLC was founded by Sara Hunt after both her sons were diagnosed with cerebral ALD. Our full time Support Services Manager provides practical, emotional and advocacy support to people and families affected by ALD and AMN. The charity also has a Grant scheme that can help with purchasing equipment that is not available through the statutory services, and can help with financial difficulties faced due to bone marrow transplant and bereavement.

Tel: 020 7701 4388

Email: info@alextlc.org

Where to find more help

These are many charities that help people in your situation. Your social worker or occupational therapist should be able to give you a list of organisations you can apply to. Also, look out in your local library or online for a publication called Grants for Individuals In Need (www.grantsforindividuals.org.uk). This directory lists every relevant charity in the UK. Some charities require a referral from your social worker, but many will accept a letter from you setting out your case. We have listed some of the most useful organisations here.

Carers Trust

Carers Trust is the largest provider of comprehensive carer support services in the UK.

It runs a network of 144 independently managed Carers’ Centres and provides quality information, advice and support services to over 400,000 carers.

www.carers.org

Tel: 0844 800 4361

Email: info@carers.org

Rights and benefits

Citizens Advice Bureau

Free information and advice on legal and money problems and can help you if you experience problems with benefits or housing. Your local branch can be found on the national website.

www.adviceguide.org.uk

Directgov

Government website for information about benefits and entitlements

www.direct.gov.uk

Disability Rights UK

Provides advice and support for disabled people on a wide range of issues from claiming the right benefits to employment and independent living.

Ground Floor, CAN Mezzanine, 49-51 East Rd London N1 6AH

www.disabilityrightsuk.org

Tel: 020 7250 8181

Email: enquiries@disabilityrightsuk.org

Equipment and financial support

Focus on Disability

A Disabled Living Centre (DLC) is where you can get free and impartial information and advice about products and equipment for disabled or older people. At a DLC you can see and try out products and explore other solutions. Centres provide free information to people in person, by telephone, letter or email.

https://www.focusondisability.org.uk/disabled-living-centres-index.html

Disabled Living Foundation

National charity that can help you find products and suppliers of equipment for disabled people. Also has an equipment demonstration centre.

www.dlf.org.uk

Helpline: 0300 999 0004

Email: helpline@dlf.org.uk

Family Fund

Motability Scheme

The motability charity helps provide wheelchair adapted cars, powered scooters and powered wheechairs for disabled people in the UK.

www.motability.co.uk

Tel: 0300 456 4566

Disclaimer

All the medical information on this site has been checked for accuracy by Alex The Leukodystrophy Charity (Alex TLC) board of medical experts but does not replace advice given from medical professionals involved with your care. Medical opinion should always be sought. The information is for general use only and is not intended to provide personal medical advice or substitute for the advice of your physician. Medical information changes rapidly and whilst Alex The Leukodystrophy Charity (Alex TLC) make every effort to update the content of the site, some information may be out of date. Remember to always seek the opinion of a medical doctor.

There are a number of links from this website to sites maintained by third parties. These links are provided purely to assist you, and in good faith. The presence of a link does not necessarily imply that Alex TLC endorses or supports those third parties.

Alex TLC cannot be held responsible for any damage or loss caused by any inaccuracy in this site, or in linked sites/pages