WHAT IS ALS? WHAT IS MOTOR NEURON DISEASE?
Amyotrophic lateral sclerosis (ALS) is a progressive neurodegenerative condition that affects the motor neurones — the nerve cells that control voluntary movement.
ALS is the most common form within the wider group of conditions known as motor neurone disease.
Less common forms include progressive bulbar palsy (PBP), which initially affects mainly speech and swallowing. In progressive muscular atrophy (PMA), muscle weakness and wasting are the main features. Primary lateral sclerosis (PLS) is characterised mainly by progressive muscle stiffness, spasticity and weakness.
These forms can overlap, and the pattern of symptoms may change as the disease progresses.
ALS affects both the upper motor neurones in the brain and the lower motor neurones in the brainstem and spinal cord.
Damage to the upper motor neurones causes muscle stiffness and spasticity, with brisk reflexes.
Damage to the lower motor neurones causes muscle weakness and wasting, together with fasciculations — small, involuntary muscle twitches visible beneath the skin.
This explains why a patient may have muscle weakness and wasting alongside stiffness or spasticity.
As the disease progresses, it can affect walking, hand function, speech, swallowing and breathing.
The order in which symptoms appear and the rate of progression vary considerably from person to person.
In most cases, the cause is not fully understood. Genetic changes can be identified in some patients, even without a known family history.
The neurologist discusses the option of genetic testing with the patient, even when there is no known family history. If the patient chooses to proceed, the neurologist refers the patient for genetic counselling before testing and again after the results are available, so that the significance of any genetic findings for the patient and the patient’s family can be explained.
WHAT ARE THE SYMPTOMS?
ALS can begin in different ways. Early symptoms may include:
- weakness in a hand, making writing, fastening buttons or holding objects difficult
- weakness in a leg, causing trips, falls or difficulty walking
- muscle wasting, cramps and fasciculations — small, involuntary muscle twitches visible beneath the skin
- muscle stiffness and spasticity
- dysphagia — difficulty swallowing food, fluids or saliva
- difficulty articulating speech clearly.
Weakness of the breathing muscles can cause breathlessness, particularly when lying flat, a weak cough, disturbed sleep, morning headaches and daytime sleepiness.
Sensation remains intact in most patients.
Difficulty articulating speech does not, in itself, mean difficulty understanding.
However, some patients may experience changes in higher cognitive functions and behaviour.
Some patients may also experience episodes of involuntary laughing or crying that are difficult to control and do not necessarily reflect how they actually feel. This can happen because ALS may affect the brain networks involved in controlling emotional expression.
HOW IS THE DIAGNOSIS MADE?
The neurologist makes the diagnosis using the medical history, neurological examination, the way symptoms develop over time and appropriate diagnostic tests.
Electromyography (EMG) and nerve conduction studies play an important role. Depending on the clinical findings, additional tests may be needed to rule out other conditions that can cause similar symptoms.
No single test can confirm or exclude ALS on its own.
At the ANAPLASI Neurophysiology Laboratory, neurophysiological testing is performed as part of the investigation of ALS, alongside neurological assessment.
HOW IS ALS TREATED?
There is currently no cure for ALS.
However, treatments are available that can modify the course of the disease, alongside interventions to manage symptoms and maintain quality of life.
Riluzole is an established drug treatment.
The targeted treatment tofersen has been approved in the European Union for adults with ALS associated with a pathogenic mutation in the SOD1 gene. Treatment is selected and monitored by the treating neurologist.
Overall care also includes Multidisciplinary Rehabilitation, respiratory and nutritional support, support for communication, and support for the family.
WHY IS EARLY REHABILITATION IMPORTANT?
Rehabilitation begins early and continues throughout the course of the disease, adapting to the patient’s changing needs.
The aim is to maintain mobility, functional ability, independence in everyday activities and communication as far as possible, while managing symptoms and preventing complications such as contractures, pressure ulcers, falls and malnutrition.
Equipment and supportive interventions should be planned early, giving the patient and their family time to understand the available options and become familiar with their use.
HOW DO WE MANAGE ALS AT ANAPLASI?
At ANAPLASI, the Multidisciplinary Rehabilitation Team, led by a specialist in Physical and Rehabilitation Medicine and working with the treating neurologist, regularly assesses mobility, breathing, swallowing, nutritional status, communication and the patient’s ability to carry out everyday activities.
The team develops an individualised Rehabilitation programme with specific, measurable therapeutic goals, regularly reviewing the patient’s condition and whether these goals are being met.
The intensity, duration and combination of interventions are tailored to the patient’s abilities, endurance and wishes.
CLINICAL AND FUNCTIONAL ASSESSMENT
Functional ability is reassessed regularly because the patient’s needs change as the disease progresses.
Assessment covers mobility, independence in everyday activities, speech, swallowing and respiratory function.
At ANAPLASI, we use the ALSFRS-R (Amyotrophic Lateral Sclerosis Functional Rating Scale-Revised) to follow changes in the patient’s ability to move, manage everyday activities, speak, swallow and breathe, and to adapt the Rehabilitation programme to their needs.
MOBILITY, EXERCISE AND FATIGUE MANAGEMENT
Depending on the patient’s abilities, physiotherapy includes active, assisted or passive movements, gentle stretching, exercises to maintain muscle function and training in safe mobility and transfers.
Exercise is adapted to muscle strength, respiratory function and fatigue, with appropriate rest breaks and without exercising to exhaustion.
Specialised aquatic therapy in the Hydrotherapy Pool may form part of the programme for selected patients whose general health and respiratory function allow it.
Spasticity is treated when it causes pain, restricts movement and function, makes care more difficult or contributes to contractures. Management includes appropriate positioning, mobilisation, suitable aids and orthoses and, where necessary, medication, taking particular care to avoid worsening existing muscle weakness.
RESPIRATORY MONITORING AND SUPPORT
Respiratory function and cough effectiveness are assessed regularly, even before significant breathlessness develops.
At ANAPLASI, respiratory physiotherapy is provided to inpatients from the time of admission, adapted to their respiratory condition and endurance, to support breathing and facilitate the mobilisation and clearance of bronchial secretions.
A weak cough may require cough augmentation techniques and, where indicated, a mechanical cough assist device.
If symptoms suggest breathing difficulties, or measurements of vital capacity and respiratory muscle strength indicate declining respiratory function, the need for non-invasive ventilation (NIV) is assessed promptly.
NIV supports breathing through a specially fitted mask, without the need for intubation.
NIV reduces the workload on the breathing muscles, helping the patient breathe more effectively and with less effort.
It can also improve sleep and quality of life and prolong survival.
Correct use and regular monitoring require specialist medical assessment and thorough training for the patient and their carers.
SWALLOWING DIFFICULTIES – DYSPHAGIA AND NUTRITION
Dysphagia requires particular attention because it can lead to aspiration — food, fluids or saliva entering the airway — as well as aspiration pneumonia, dehydration and malnutrition.
Early assessment and regular monitoring of body weight and food and fluid intake are essential.
At the ANAPLASI Dysphagia Unit, when clinically indicated, Flexible Endoscopic Evaluation of Swallowing (FEES) is performed to assess the safety and efficiency of swallowing and guide the individualised planning of treatment, feeding and hydration.
The speech and language therapist and clinical dietitian work with the doctor to adapt food textures and fluid consistencies, positioning and feeding techniques, and the nutritional plan.
GASTROSTOMY
Gastrostomy — the placement of a feeding tube directly into the stomach — is discussed early with the patient and, if they wish, with their family.
To help guide the decision, the ANAPLASI Multidisciplinary Team considers swallowing difficulties, weight loss, respiratory function, the effort and fatigue involved in eating, the risk of choking and aspiration, and the patient’s wishes.
The decision is made after a full discussion of the benefits, potential risks and practical requirements of day-to-day care.
After the tube has been placed, ANAPLASI’s nutritional support team and nursing staff teach the patient and their family how to use and care for it safely at home, helping to meet the patient’s nutritional and hydration needs.
MANAGING SIALORRHOEA
ALS can cause sialorrhoea, or drooling, particularly when the patient has difficulty controlling the movements of the mouth and tongue involved in swallowing.
It is important to understand that drooling usually results from difficulty managing and swallowing saliva, rather than producing too much of it.
Saliva passing backwards into the throat needs particular attention because it can increase the risk of aspiration.
Management is tailored to the individual and may include appropriate positioning, oral hygiene, strategies to help manage saliva and swallowing, and medication where needed.
In selected patients with severe or persistent sialorrhoea that is not adequately controlled by medication, or when medication is not well tolerated, botulinum toxin type A may be injected into the salivary glands by a specialist doctor, usually under ultrasound guidance.
The doctor carefully assesses swallowing and breathing before the injections and monitors the patient afterwards. Botulinum toxin can make swallowing or breathing more difficult and increase the risk of aspiration.
SPEECH AND MAINTAINING COMMUNICATION
At ANAPLASI, speech and language therapy helps the patient communicate with as little effort as possible. Appropriate communication aids are selected early and adapted as the patient’s abilities change.
Options include alphabet or symbol boards, speech-generating applications and, where necessary, systems controlled by eye movements. If the patient wishes, early recording of their own voice for future use in a communication system can also be explored.
The patient’s ability to express their needs, wishes and decisions remains a central therapeutic goal.
INDEPENDENCE IN DAILY LIFE, ASSISTIVE DEVICES AND CARE
At ANAPLASI, occupational therapy helps the patient carry out everyday activities safely and with less fatigue. Recommendations may include home adaptations, eating and dressing aids, orthoses, an appropriate wheelchair and support for a comfortable, stable sitting position.
In ANAPLASI Inpatient Rehabilitation, advanced therapeutic beds are used for appropriate positioning and pressure management. For patients who need substantial assistance with transfers, electrically powered patient hoists may also be used to make transfers safer.
Nursing and therapeutic care includes pressure ulcer prevention, mouth and skin care, management of pain and constipation, and safe daily mobilisation.
PSYCHOLOGICAL – NEUROPSYCHOLOGICAL INTERVENTION TO THE PATIENT AND FAMILY SUPPORT
At ANAPLASI, the patient and their family receive psychological support, information and practical training.
Changes in higher cognitive functions or behaviour require neuropsychological assessment and appropriate adjustments to communication and care.
Family members and appropriately trained carers are given guidance on transfers, feeding, using equipment and recognising problems that require medical assessment. The Social Work Service helps organise support at home.
Future care is planned early with the patient, respecting their choices. Palliative care can be provided alongside other care, according to need, to manage symptoms and support both the patient and their family.
SEXUAL FUNCTION AND REHABILITATION
ALS can affect sexual life mainly through muscle weakness, fatigue, restricted mobility, breathing difficulties and the psychological effects of the disease.
At ANAPLASI, when a problem arises and the patient wishes to address it, sexual rehabilitation may include individualised assessment, practical advice on safer and less physically demanding positions, management of factors affecting sexual function, counselling and psychological support and, where necessary, specialist medical treatment.
The patient’s partner may also be involved if the patient wishes.
CREATIVE ACTIVITIES, SPORT AND SOCIAL PARTICIPATION
At ANAPLASI, creative activities, sport and social participation complement the Rehabilitation programme. They are tailored to each patient’s clinical and functional condition, muscle strength, respiratory function, endurance, interests and therapeutic goals.
Activities may include painting, crafts, cooking, music and group activities, adapted sport, and participation in cultural and social activities both within and outside ANAPLASI. The Multidisciplinary Rehabilitation Team selects and adapts these activities with the patient as their abilities and needs change over the course of the disease. Particular attention is paid to fatigue, respiratory function, safe mobility and communication, using appropriate aids, allowing adequate rest breaks and avoiding exhaustion.
The aim is to maintain active participation, social interaction and personal interests, helping patients make use of their functional abilities and providing the support they need in everyday and social life.
HOW IS REHABILITATION PROVIDED?
Rehabilitation may be provided through Inpatient Rehabilitation, Day Rehabilitation or Rehabilitation at Home, according to the patient’s clinical and functional condition and individual needs, with ongoing coordination between the professionals involved in their care.
WHAT IS THE AIM OF THE REHABILITATION PROGRAMMES?
At ANAPLASI, our aim is to help each patient maintain their functional ability, independence and communication to the greatest possible extent and for as long as possible, while preserving safety, dignity and active participation in personal, family, social and working life.
