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Myasthenia Gravis (MG) is a neuromuscular disease characterized by fatigue and weakness that worsens with exercise and improves with rest. Etymologically, the word myasthenia comes from the Greek “mys” (muscle) and “astheneia” (weakness), while “gravis” (severe) derives from Latin.
MG is classified as a rare disease, meaning it is uncommon. Its estimated prevalence is 50 to 200 cases per million people. It has a bimodal presentation: in women, it typically begins before the age of 40, while in men it usually appears around 50 years of age. It is rare in children. Recent epidemiological studies have described an increase in the incidence of late-onset cases (after age 60) without a clear sex predominance.
The main initial symptom of myasthenia gravis (MG) is muscle weakness and fatigue, which vary throughout the day. Muscle weakness worsens progressively during periods of physical activity and improves after rest. Many patients also report fluctuations related to seasons, work or psychological stress, menstruation, or intercurrent infections. In general, weakness and fatigue worsen toward the end of the day. These fluctuations and the worsening with physical activity are key signs to differentiate MG from other conditions, such as mental fatigue or chronic fatigue syndrome, where tiredness appears in the morning or at rest.
MG usually begins with ocular symptoms, such as double vision (diplopia) and/or drooping eyelids (ptosis), which can be unilateral or bilateral. Ocular symptoms often worsen when watching TV, reading, driving, or in bright light. Symptoms from bulbar muscle involvement are also common, including difficulty swallowing, chewing, or speaking. Approximately 16% of patients present initially with one of these bulbar symptoms. Other possible manifestations include difficulty holding the head upright, inability to keep the mouth closed, shortness of breath, early fatigue when walking, turning in bed, raising arms, or opening bottles or jars.
Approximately 20% of patients may experience a myasthenic crisis during their lifetime, causing serious respiratory or swallowing problems that may require hospitalization. Crises can be triggered by stress, infections, medications, surgery, or even emotional stress.
Diagnosis of MG is based on symptoms, physical examination, and paraclinical tests. The most important tests include electromyography (EMG and SF-EMG) and the edrophonium test (Tensilon®). In most patients, antibodies (AChR and MuSK) can be detected in serum. A small percentage of patients are seronegative. A CT scan is recommended to rule out the presence of a thymoma.
Treatment usually involves acetylcholinesterase inhibitors combined with immunosuppressive medications. Most of these drugs have dose-dependent side effects that must be considered. Treatment decisions should be made jointly with the patient, taking into account disease guidelines, physician experience, and the clinical form of MG. Care of an MG patient typically involves lifelong follow-up with a neurologist.
Thymectomy (surgical removal of the thymus) can improve symptoms, prevent certain complications, and reduce the dose of immunosuppressive drugs. It is recommended for generalized MG in patients under 55 years of age and in all patients with thymoma, regardless of age.
Plasmapheresis and intravenous immunoglobulins (IVIG) can be used during exacerbations. In myasthenic crises, mechanical ventilation may be required.
With proper treatment, most patients lead relatively normal lives and have a normal life expectancy.
Pregnancy: Physiological changes during pregnancy (nausea, vomiting, weight gain, increased blood volume, changes in kidney function, and altered gastrointestinal absorption) can affect MG and may require medication dose adjustments. Pregnant women with MG are at higher risk of complications and adverse effects. About one-third of pregnancies experience clinical worsening of MG, mainly in the first and third trimesters and postpartum. Some medications used in MG can cause fetal malformations or increase the risk of miscarriage or low birth weight.
Newborns of MG mothers may present transient neonatal myasthenia due to maternal antibody transfer.
Because complications during pregnancy and delivery are unpredictable, specialized multidisciplinary care is recommended, involving at least a neurologist, obstetrician, anesthesiologist, and neonatologist.
Surgery, particularly thymectomy, can precipitate a myasthenic crisis. High disease functional scores, low spirometric values, and severe comorbidities are major risk factors. Risk assessment should involve pulmonologists, surgeons, and anesthesiologists.
Procedures under local, regional, or epidural anesthesia generally do not carry a risk of myasthenic crisis.
Some medications may worsen myasthenic symptoms, so it is important to inform healthcare providers about MG before prescribing new drugs. Certain vaccines, foods, and beverages may also be contraindicated. A list of safe medications is available at: https://www.neuromuscularbarcelona.org/miastenia/
Many MG patients also have other autoimmune disorders. The most common is hypothyroidism.
Daily gentle exercise with rest periods is recommended, considering the fluctuating nature of symptoms. Respiratory exercises at home can complement training. Maintaining a healthy weight is very important.
Treatment with the drug levodopa allows many of the functions deteriorated or lost due to the disease to be restored. It is the most effective treatment, but it also has limitations: as the disease progresses, its effect becomes transient and fluctuates. When the medication is working, the patient feels well, in the "On" state. When the effect wears off, the patient enters the "Off" state, and symptoms reappear.
To improve the effects of levodopa, different routes of administration have been investigated (inhaled, transdermal, intrajejunal) and various pharmaceutical formulations have been developed. Administration via gastrostomy with a levodopa gel infusion has been particularly successful.
There are also other pharmacological and neurosurgical treatments, such as electrical stimulation of specific brain areas, which provide good results. Research is ongoing to target the diseased brain using stereotactic ultrasound, avoiding trepanation and traditional surgery.
New avenues of research have opened in Parkinson’s disease to determine its causes, prevent its progression, and maximize symptom management.
Low-intensity physical exercise, practiced regularly and consistently—such as simply walking for half an hour to an hour each day—helps preserve automatic and semi-automatic motor functions.
Walking involves two aspects of movement: voluntary and automatic. The voluntary movement would be the act of taking steps, while others—such as arm swinging, foot placement when stepping, head and neck position, etc.—have an important involuntary component.
All body movements benefit from exercise. The motor abilities we all have, which seem easy and permanent, are not necessarily so. Certain movements—like touching the floor with your fingers while keeping your legs straight—can be lost over time if not practiced.
We need constant maintenance, perhaps of low intensity, but sustained over time, to enjoy the full potential of our bodies throughout life.
The Epilepsy Unit provides specialised, high-quality care for both adult and paediatric patients with epilepsy. We are an international centre of excellence and have the largest multidisciplinary team of professionals in Spain offering personalised, comprehensive care for people with epilepsy, including diagnosis, treatment, and ongoing follow-up at our outpatient clinics.
At the Epilepsy Unit we provide expert, specialised care for adults and children with epilepsy. With over 20 years of experience, we are recognised internationally as a reference centre. Our multidisciplinary team offers personalised and comprehensive attention to each patient.
Hereditary spastic paraplegias (HSPs) are a group of rare, genetic neurological disorders characterised by progressive weakness and stiffness (spasticity) in the legs. This leads to increasing difficulty with walking over time. They are described as ‘hereditary’ because they are caused by alterations in genes that can be passed on within families.
They are also known as familial spastic paraplegias or Strümpell-Lorrain syndrome.
HSPs are considered rare diseases, with symptoms that may begin from childhood to adulthood, depending on the genetic type. Neurologically, the primary problem is a progressive degeneration or dysfunction of the nerve pathways that run from the brain to the spinal cord, which are responsible for controlling limb movement and mainly affect the legs.
There are different forms of HSPs, sometimes classified as “pure” and “complex” types. In the pure forms, the symptoms are mainly limited to difficulty walking due to stiffness in the lower limbs. In the complex forms, in addition to paraparesis, other neurological symptoms or involvement of other organs may occur. To date, more than 80 genes have been identified in which mutations can cause HSPs. This explains the variability within HSPs, although each genetic type may present differently in each patient or family.
Although HSPs share the characteristic of leg spasticity with cerebral palsy, they are a distinct condition. In HSPs, there is no fixed brain injury present at birth, but rather a genetic alteration that causes a slow and progressive development of symptoms, which can sometimes be difficult to detect.
The main symptom of HSPs is progressive difficulty walking, caused by a combination of muscle weakness and spasticity in the legs. The most common signs and symptoms are:
HSPs can affect people of any age, although symptoms usually begin in childhood or adolescence. Both men and women can be affected by the condition.
Diagnosis involves several tests, which you can find here, and include:
At Vall d’Hebron University Hospital, patients benefit from the most advanced genetic sequencing techniques to achieve a precise molecular diagnosis quickly and efficiently. However, a proportion of patients still remain undiagnosed. That is why we are engaged in research to try to diagnose all cases and participate in international registries and projects aimed at improving the clinical assessment of patients.
You can view the HSP diagnosis infographic here.
Monitoring of the disease includes:
Currently, there is no cure, but multiple treatments are available to improve symptoms and quality of life:
The hospital offers cutting-edge surgical techniques and access to clinical trial units, enabling patients with HSPs to benefit from experimental therapies and innovative treatments.
HSPs can present at different stages of life and are chronic conditions that require long-term monitoring. At Vall d’Hebron Hospital, lifelong follow-up is ensured from the prenatal period through to adulthood. We also collaborate in research and ensure a smooth and effective transition through joint consultations and efficient communication. We also collaborate with patient associations to support research and raise public awareness about these conditions.
Discover more about the disease in this video:
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