Amyotrophic lateral sclerosis (ALS):
diagnosis, riluzole, care and aids

1. What is ALS?

Amyotrophic lateral sclerosis (ALS) is a disease of the motor neurons — the nerve cells that pass movement commands on to the muscles. Two levels are affected: the upper motor neuron in the cerebral cortex and the lower motor neuron in the brainstem and spinal cord. As these cells gradually die, the muscles become weaker, waste away (amyotrophy) or become stiff (spasticity).^¹,²

Sensation, vision, hearing, and bladder and bowel control are usually preserved, as are, in most cases, eye movements. In some of those affected, however, thinking, language or behaviour change — up to and including frontotemporal dementia, a particular form of dementia.^¹

ALS is rare, but not as rare as is often thought. It is progressive and cannot yet be cured. How quickly it progresses, however, varies greatly: some people lose many abilities within a few years, while a smaller proportion live with the disease for ten years or more. What has improved markedly in recent decades is care — breathing support, nutrition and aids extend life and preserve quality of life.^¹,²

2. Types and course

ALS belongs to the group of motor neuron diseases. Depending on where it starts and which nerve cells are mainly affected, a distinction is made between:^¹

• Spinal onset — the most common form: weakness first appears in a hand, arm, foot or leg, usually on one side.
• Bulbar onset — speaking and swallowing are affected first (the “bulb” is the lower part of the brainstem). This form often progresses more quickly.
• Respiratory onset — rarely, ALS begins with weakness of the breathing muscles.
• Related forms — primary lateral sclerosis (upper motor neuron only) and progressive muscular atrophy (lower motor neuron only) usually progress more slowly; some later develop into ALS.

In practice, the course is tracked with a standardised questionnaire on everyday function (ALSFRS-R) and with lung function tests. Weight loss and breathing strength that declines early are unfavourable signs — and that is exactly where care comes in.^¹

3. Symptoms: how ALS begins

What is typical is painless, slowly increasing weakness that spreads from one region of the body to others.^²

Signs of the lower motor neuron

• Weakness and muscle wasting — for example on the hand between the thumb and index finger; buttons, keys and writing become an effort.
• Foot drop — the front of the foot is hard to lift, and you trip.
• Muscle twitching (fasciculations) and cramps — often in many places.

Signs of the upper motor neuron

• Stiffness and spasticity — movements become slow and clumsy, and the reflexes are exaggerated.
• Pathological laughing or crying — sudden, uncontrollable emotional outbursts that do not match the person's mood.

Speaking, swallowing, breathing

• Slurred speech and difficulty swallowing with choking; saliva runs out of the mouth because it is hard to swallow.
• Unintentional weight loss — due to muscle wasting, difficulty eating and increased energy use.
• Declining breathing strength — breathlessness when lying down, restless sleep, morning headaches and daytime tiredness can be early signs.

4. Causes: sporadic and inherited

Why the motor neurons die is only partly understood. Misfolded proteins that build up in the cells, disturbances of cell metabolism and inflammatory processes in the nervous system are being discussed.^¹,²

• Sporadic ALS — the large majority; with no recognisable clustering in families. Genetic predisposition and environmental factors probably work together, without any single trigger being identifiable.
• Familial ALS — in a smaller proportion, a causative gene is known, most commonly C9orf72, as well as SOD1, TARDBP and FUS. Such changes are sometimes also found without any known family history.
• Risk factors — older age and male sex. Many other factors such as smoking, sport or environmental toxins are being investigated, but little has been reliably proven.

5. Diagnosis: ruling out and confirming

There is no single test for ALS. The neurologist makes the diagnosis by demonstrating progressive damage to the upper and lower motor neurons and ruling out other causes. Newer criteria (the Gold Coast criteria) allow an earlier diagnosis than the older El Escorial criteria.^¹,³

• Neurological examination: strength, muscle wasting, fasciculations, reflexes, spasticity, speaking and swallowing — in several regions of the body.
• Electromyography (EMG) and nerve conduction: show the loss of lower motor neurons even in muscles that do not yet seem weak, and distinguish ALS from nerve damage such as polyneuropathy.
• MRI of the head and cervical spine: rules out, for example, narrowing of the spinal cord in the neck, which can cause similar signs.
• Blood and cerebrospinal fluid: to rule out inflammatory, metabolic or infectious causes. The neurofilament level (NfL) indicates nerve cell loss and supports the assessment, but is not proof.
• Lung function: as a baseline for breathing strength and vital capacity.
• Genetic testing: is now offered to many of those affected, partly because a specific treatment is available for an SOD1 mutation.

It often takes almost a year to reach a diagnosis — partly because the first signs are non-specific. With a diagnosis that has such far-reaching consequences, a second opinion at a specialised ALS centre is entirely legitimate.

6. Treatment: what medicines can do

The honest message first: there is as yet no medicine that stops or cures ALS. The available substances can slow the course in some of those affected. Good symptomatic treatment and care from a multidisciplinary team achieve at least as much. Which treatment suits you is decided by the treating practice together with you.^¹

Research is very active, and many substances are being tested in studies. An ALS centre can assess whether taking part in a study is an option for you.^¹

Riluzole in everyday life

Riluzole is usually well tolerated but requires attention:^⁴,⁵

• Liver values: according to the summary of product characteristics, monthly for the first three months, every three months for the rest of the first year, and regularly after that.
• Report fever: rarely, the white blood cell count falls. You should tell the practice about any illness with a fever.
• Cough and breathlessness: very rarely, the medicine causes inflammation of the lungs (interstitial pneumonia) — a dry cough or new breathlessness needs to be checked.
• Common side effects: tiredness, nausea, dizziness, tingling around the mouth.
• Interactions: riluzole is broken down by the liver enzyme CYP1A2. Inhibitors of this enzyme such as fluvoxamine or some antibiotics from the quinolone group can raise its level, while smoking can lower it. Have every new medicine checked against it.
• Swallowing problems: there are also liquid preparations that may be suitable if you have swallowing problems or for giving via a tube — the pharmacy knows what is available.

7. Relieving symptoms: saliva, cramps, spasticity

A large part of ALS treatment targets individual symptoms. Noticeable relief is often possible here — even though the evidence for many medicines in ALS is thin and the guideline relies largely on experience. Many substances are used outside their approved indication (off-label).^¹

Because several of these medicines have an anticholinergic effect, side effects such as dry mouth, constipation and drowsiness easily add up. Background in the guide Anticholinergic burden.

8. Breathing and nutrition

Two measures have a particularly well-documented benefit in ALS — and both work best when they are planned in good time, not only once a crisis occurs.^¹,²

Non-invasive ventilation

When the breathing muscles become weaker, a ventilator supports breathing via a mask, usually at night to begin with. Non-invasive ventilation improves sleep, daytime tiredness and quality of life and extends life. A cough assist device helps you cough up mucus. Whether ventilation via an opening in the windpipe (tracheostomy) is wanted later is a very personal decision that should be discussed early and calmly.

Nutrition and feeding tube

Weight loss worsens the outlook. That is why nutritional advice is part of care from early on: high-calorie food, thickened drinks if you choke, help from speech and language therapy. If eating becomes too exhausting or dangerous, a feeding tube can be placed through the abdominal wall (PEG). According to the guideline, this should be done while breathing function still allows the procedure without difficulty — in other words, sooner rather than later. With a tube, you can still eat whatever you enjoy and can manage safely.^¹

9. Care, aids and communication

ALS affects almost every area of life. Specialised ALS centres and outpatient clinics bring together neurology, respiratory therapy, nutrition, physiotherapy, occupational therapy and speech therapy, the provision of aids, social counselling and palliative medicine. The guideline explicitly recommends this multidisciplinary care.^¹,⁶

• Mobility — foot drop splints (orthoses), walking aids, a wheelchair and later an electric wheelchair with adapted controls.
• Living and care — care bed, hoist, shower chair, home adaptations. Apply for aids in good time; approvals often take longer than the course of the disease allows.
• Communication — speech therapy, communication boards, speech-generating devices through to eye-tracking control. If you record your own voice early on (voice banking), you can use it later in a speech computer.
• Social matters — a care level (Pflegegrad) under long-term care insurance, a severe disability pass (Schwerbehindertenausweis), exemption from co-payments, see Co-payments and exemptions.
• Planning ahead — an advance directive and a lasting power of attorney while speaking and writing are still easy; also covering ventilation and feeding tubes specifically.
• Palliative care — not “giving up”, but relief from breathlessness, anxiety and pain, at home if you wish with specialised outpatient palliative care (SAPV).

10. Everyday life with ALS

• Pace yourself — moderate, adapted exercise with physiotherapy maintains mobility; training to the point of exhaustion tends to do harm.
• Maintain your weight — weigh yourself regularly and raise any weight loss early; snacks between meals and nutritional drinks can help.
• Share your medication plan — relatives, the home care service and the hospital need the same up-to-date list, including how medicines are given via the tube. Instructions under Create a medication plan.
• Prepare for emergencies — diagnosis, medicines, wishes regarding ventilation and contact persons ready to hand, for example in an emergency folder by the bed.
• Vaccinations — protection against flu, pneumococci and COVID-19 lowers the risk of pneumonia, see Vaccinations for adults.
• Support relatives — carers need breaks, advice and contact with others themselves, for example through the Deutsche Gesellschaft für Muskelkranke (German association for people with neuromuscular diseases).

ALS takes a lot, but not everything. Planning early — breathing support, nutrition, communication, advance arrangements — keeps decisions in your own hands for longer. That is what care is ultimately about.

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