WHAT IS MYASTHENIA GRAVIS AND WHAT CAUSES IT?
Myasthenia Gravis – MG is a chronic autoimmune neuromuscular disorder in which the transmission of nerve impulses from the nerve to the muscle is impaired.
The body’s immune system, which normally protects us from infections, mistakenly produces autoantibodies against proteins of the neuromuscular junction, meaning antibodies that target proteins of the body’s own tissues.
The neuromuscular junction is the point where the nerve transmits the signal that instructs the muscle to contract.
This results in muscle weakness that can vary throughout the day, with the muscles tiring easily.
Weakness usually increases with continuous or repeated activity and improves with rest.
The condition can occur at any age.
HOW DOES IT PRESENT?
Symptoms vary depending on which muscles are affected. They may include:
- drooping of one or both upper eyelids,
- diplopia, or double vision,
- difficulty chewing, particularly as a meal progresses,
- dysphagia, meaning difficulty swallowing food, liquids or saliva,
- changes in the voice or difficulty speaking clearly, which may increase with prolonged speaking,
- neck weakness and difficulty holding the head up,
- weakness of the upper or lower limbs, with difficulty walking, climbing stairs or carrying out everyday activities,
- weakness of the respiratory muscles, meaning the muscles that are essential for breathing and an effective cough.
In ocular myasthenia, symptoms are confined to the muscles of the eyes and eyelids.
In generalised myasthenia, other muscle groups are also affected.
Muscle strength may fluctuate even within the same day. For this reason, what a patient is able to do at a particular moment does not always reflect the difficulties they experience in everyday life.
HOW IS IT DIAGNOSED?
The neurologist assesses the medical history, the characteristic fluctuation in muscle weakness and the findings of the neurological examination.
Investigations include blood tests for specific autoantibodies and specialised neurophysiological testing, such as repetitive nerve stimulation and, when required, single-fibre electromyography.
The absence of detectable autoantibodies does not exclude myasthenia.
Imaging of the thymus gland is also performed, primarily to check for a thymoma.
HOW IS IT TREATED?
Effective treatments are available to control the disease and improve muscle function.
Treatment may include pyridostigmine, which facilitates neuromuscular transmission, corticosteroids and other immunotherapies.
In appropriately selected patients with generalised myasthenia, newer targeted immunotherapies may also be used, including complement inhibitors and neonatal Fc receptor (FcRn) inhibitors, depending on the form of the disease, the autoantibodies present and the patient’s treatment history.
Thymectomy, the surgical removal of the thymus gland, is indicated when a thymoma (a tumour of the thymus gland) is present and in selected patients with generalised myasthenia without thymoma.
In the event of severe deterioration, intravenous immunoglobulin or therapeutic plasma exchange may be required.
The treating neurologist selects and adjusts treatment according to the form of the disease, the autoantibodies present, the severity of symptoms, previous treatments and the patient’s response.
MEDICINES AND OTHER FACTORS THAT CAN WORSEN MYASTHENIA
Certain medicines can worsen myasthenic weakness. Patients should therefore inform every doctor and dentist that they have Myasthenia Gravis and consult their treating neurologist before starting a new medicine or making a significant change to their medication.
Patients should not stop or alter prescribed medication on their own. They should also inform their doctor about any over-the-counter medicines and dietary supplements they are taking.
Particular caution is required with certain antibiotics and other medicines that may interfere with neuromuscular transmission.
Botulinum toxin is generally avoided, while particular caution is required with magnesium, especially when it is administered intravenously, because it may worsen myasthenic weakness.
Infections, fever, surgery, overheating and other factors that place additional stress on the body may also worsen symptoms.
WHEN IS URGENT MEDICAL TREATMENT REQUIRED?
New or worsening difficulty breathing, inability to cough effectively, severe difficulty swallowing or inability to manage saliva require immediate hospital assessment.
Severe weakness of the respiratory muscles can lead to a myasthenic crisis, requiring respiratory support and admission to an Intensive Care Unit.
A normal oxygen saturation reading on a pulse oximeter does not exclude significant respiratory muscle weakness.
If breathing deteriorates, call 112 or 166 without waiting for the oxygen saturation to fall.
WHY IS REHABILITATION IMPORTANT?
Muscle weakness, fatigue and problems with swallowing or breathing may limit self-care, mobility, work and social life.
Rehabilitation is an integral part of the patient’s overall management and complements medical treatment.
Its aims are to improve functional ability, reduce fatigue and enable everyday activities to be carried out safely.
Careful adaptation of therapeutic exercise is particularly important because muscle strength and endurance may vary considerably during the day.
HOW DO WE MANAGE MYASTHENIA AT ANAPLASI?
At ANAPLASI, the Multidisciplinary Rehabilitation Team, led by the specialist physician in Physical and Rehabilitation Medicine and working in collaboration with the treating neurologist, systematically assesses muscle strength, muscle fatigue, walking, endurance, speech, swallowing, respiratory function and the patient’s ability to perform activities of daily living.
Based on these findings, an individualised Rehabilitation programme is developed, with specific and measurable therapeutic goals and regular reassessment of the patient’s progress and achievement of those goals.
The intensity, duration and combination of therapeutic interventions are adapted to the needs and abilities of each patient.
The programme includes:
- physiotherapy and carefully adapted muscle strengthening,
- aerobic exercise and functional training,
- gait training,
- fatigue management and energy conservation,
- occupational therapy and training in activities of daily living,
- assessment for appropriate aids and orthoses and training in their use,
- speech and language therapy for speech and swallowing disorders,
- dietetic assessment and follow-up,
- clinical psychology, including assessment and, when required, psychological support for the patient and their family,
- guidance for the gradual return to work and social life,
- assessment and management of sexual dysfunction.
Patients and their families are also provided with information, education and guidance about the course of the disease, the Rehabilitation process, safe everyday activity and the early recognition of possible deterioration.
CLINICAL AND FUNCTIONAL ASSESSMENT
Assessment in Myasthenia Gravis must take into account that muscle strength varies with activity, fatigue, the time of day and the effects of medication.
For this reason, the patient’s progress is assessed using repeated measurements of muscle strength, fatigue, functional ability, walking, endurance, swallowing and respiratory function.
When indicated, standardised assessment scales are used, including the MG-ADL (Myasthenia Gravis Activities of Daily Living), the QMG (Quantitative Myasthenia Gravis) and the MG-QOL15r (Myasthenia Gravis Quality of Life 15-item Revised), so that disease severity, its impact on everyday life and the response to therapeutic interventions can be documented more accurately.
At the ANAPLASI Neurophysiology Laboratory, specialised neurophysiological testing can be performed when clinically indicated.
MUSCLE FATIGUE AND APPROPRIATE ADJUSTMENT OF EXERCISE
When the disease is clinically stable, appropriately adapted exercise may help improve muscle strength, endurance and functional ability.
The intensity, duration, number of repetitions and rest intervals are individually determined. Exercise is increased gradually according to the patient’s endurance and response.
Therapists monitor the patient’s response during the therapeutic session and any fatigue that persists afterwards.
If weakness increases significantly during exercise, the exercise should be stopped and the patient medically reassessed.
Unusually prolonged fatigue after a session requires reassessment of the programme.
New or worsening difficulty with speech, swallowing or breathing requires immediate medical assessment.
Sessions are scheduled, whenever possible, during periods of better muscle function, also taking into account the effects of medication. Exhaustion and overheating are avoided.
Through occupational therapy, patients are trained to organise their activities, alternate activity with rest and use appropriate aids, thereby limiting unnecessary muscular exertion.
SPEECH AND SWALLOWING
Fatigue of the muscles involved in chewing and swallowing may increase as a meal progresses.
Dysphagia requires particular attention because it may lead to aspiration (food, liquids or saliva entering the airway), pneumonia, dehydration and malnutrition.
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 to guide the individualised planning of treatment, feeding and hydration.
The effect of fatigue on swallowing is also assessed.
Depending on the findings, the consistency of food and liquids, the size and duration of meals, rest breaks and the patient’s position during feeding are adjusted.
Meals are scheduled individually, taking into account the effects of medication and the neurologist’s instructions, so that the patient eats when muscle function is at its best.
The dietitian monitors body weight, hydration and whether nutritional requirements are being met.
When the voice or articulation is affected, individualised speech and language therapy is provided, adapted to the patient’s endurance.
RESPIRATORY FUNCTION
Assessment includes respiratory function, the effectiveness of the cough and the ability to clear secretions. When required, objective measurements of vital capacity and respiratory muscle strength are performed.
At ANAPLASI, all inpatients receive respiratory physiotherapy from admission, with the aim of maintaining and improving respiratory function, promoting lung expansion and facilitating the mobilisation and clearance of bronchial secretions.
Techniques and intensity are adapted to the patient’s respiratory status and fatigue. Specific respiratory muscle training is used only in appropriately selected, clinically stable patients and under medical guidance.
SPECIALISED AQUATIC THERAPY IN THE HYDROTHERAPY POOL
At ANAPLASI, in selected, clinically stable patients, specialised aquatic therapy in the Hydrotherapy Pool may be used to facilitate movement and functional exercise.
Selection requires assessment of the patient’s general, respiratory and cardiovascular status, their ability to manage secretions safely and their endurance.
Water temperature, depth of immersion, exercise intensity and session duration are individually adjusted to avoid overheating, excessive fatigue and respiratory strain.
CARE OF THE SEVERELY AFFECTED PATIENT
Prevention of complications begins during acute hospital treatment. Following severe deterioration or a myasthenic crisis, Rehabilitation begins or continues as soon as the patient’s medical condition allows, even before they are able to get out of bed.
In patients with very limited mobility, care includes appropriate positioning, controlled mobilisation, respiratory care and prevention of complications associated with immobility.
During Inpatient Rehabilitation at ANAPLASI, advanced therapeutic beds are used. These allow controlled and programmed changes of position, alternating lateral rotation, specialised pressure management, full-chair positioning and, when indicated, gradual progression to a more upright position.
These functions also contribute to both the prevention and management of pressure ulcers.
The beds also provide percussion and vibration functions which, when clinically indicated, may form part of the patient’s respiratory care.
These capabilities are used as part of the overall medical, nursing and therapeutic management and do not replace active mobilisation or the structured Rehabilitation programme.
In patients with a high level of physical dependence, electrically powered patient hoists may also be used for safer transfers from the bed to the wheelchair and to treatment areas.
The programme is systematically reassessed and adapted as the patient’s muscle strength, respiratory function, endurance and functional status change.
SEXUAL FUNCTION AND REHABILITATION
Muscle weakness, fatigue and the psychological effects of the disease may affect sexual life.
At ANAPLASI, when there is a relevant problem and the patient wishes to address it, sexual rehabilitation may include individualised assessment, management of factors affecting sexual function, practical guidance, counselling and psychological support and, when required, specialist medical treatment.
The involvement of the patient’s partner may be helpful if the patient wishes.
CREATIVE ACTIVITIES, SPORT AND SOCIAL PARTICIPATION
At ANAPLASI, creative activities, sport and social participation complement the Rehabilitation programme and are adapted to each patient’s clinical and functional status, muscle strength, endurance, interests and therapeutic goals.
Activities may include painting, crafts, cooking, music and group activities, adapted sport, and participation in cultural and social activities within and outside ANAPLASI.
The Multidisciplinary Rehabilitation Team selects and gradually introduces activities in collaboration with the patient. Particular attention is paid to fluctuations in muscle strength, fatigue and respiratory function, with adequate rest breaks and avoidance of exhaustion and overheating.
The aim is active participation, social interaction, optimal use of functional abilities and gradual reintegration into everyday and social life.
HOW IS REHABILITATION PROVIDED?
Rehabilitation may be provided through Inpatient Rehabilitation, Day Rehabilitation or Rehabilitation at Home, depending on the patient’s clinical stability, functional status and individual needs.
The team guides the patient and their family regarding necessary adaptations at home and the gradual return to work and everyday life.
WHAT IS THE AIM OF THE THERAPEUTIC PROGRAMMES?
At ANAPLASI, the aim is to achieve the greatest possible recovery of the patient’s functional ability and independence and to support their active return to personal, family, social and working life.
