Spastic Paraplegia

Spastic Paraplegia

Spastic paraplegia is understood to mean neurodegenerative diseases. They are either inherited or occur spontaneously.

What is spastic paraplegia?

Spastic paraplegia (SPG) is the name for several neurodegenerative diseases. Doctors also call it spastic spinal paralysis. The diseases are divided into spontaneous and hereditary forms. Hereditary spastic paraplegia is known as the Strümpell-Lorrain syndrome or hereditary spastic paraplegia (HSP). These are genetically heterogeneous diseases that are triggered by mutations in different genes. For definition of auditory processing disorders in English, please visit acronymmonster.com.

Spastic paraplegia becomes noticeable through paralysis in the legs. There is a risk that those affected will need a wheelchair for the rest of their lives. Men are twice as likely to develop spastic paraplegia as women.

Causes

About 75 percent of all spastic paraplegias are inherited. All other cases occur sporadically. There are about 48 different gene loci associated with hereditary spastic paraplegia. Doctors refer to them as spastic paraplegia genes (SPG). They are divided into the numbers 1 to 48. Depending on the form, the inheritance takes a different course. A distinction is made between an autosomal recessive, an autosomal dominant and an x-linked form. 23 genes are affected by mutations.

Spastic paraplegia is rare, presenting in ten out of every 100,000 people. The spastic spiral analysis does not represent a single disease. Instead, it forms a group of different diseases that result in a stiffening of the leg muscles of the affected person. In recent years, scientists have been able to identify several genes that are associated with spastic paraplegia. Even the products made by these genes could be discovered. This gives hope to understand the course of the disease, which is not yet exactly known, and to develop appropriate therapies that are able to end the insidious disease.

Symptoms, Ailments & Signs

Spastic paraplegia is divided into an uncomplicated and a complicated form. In the uncomplicated form, patients suffer from a spastic increase in tone within the leg muscles and slight sensory disturbances in the legs and feet. Slight bladder emptying disorders can also occur. The complicated form shows up less often. Those affected often also suffer from epilepsy, disorders of the peripheral nerves, eye diseases, disturbed aiming movements ( ataxia ) or dementia.

The first symptoms of spastic paraplegia can appear between childhood and old age. In most cases, however, they become noticeable between the second and fourth decades of life. This initially leads to stiffness in the legs, which is followed by disturbances in balance and gait. The symptoms are due to a spastic increase in tone. This means that the affected person can no longer move his limbs as easily as in a healthy state.

The leg stretches in the knee-hip joint, while the foot is pushed in the lower direction inside the ankle joint. As a result, patients find it harder to walk and trip more often. In the worst case, the patient becomes dependent on a wheelchair as the disease progresses. In the case of uncomplicated spastic paraplegia, there are only minor limitations in strength.

A slight muscle wasting is evident in the legs. The sensitivity to vibration and position are also impaired on the lower legs and feet. About 30 to 40 percent of all patients suffer from bladder emptying disorders. They often feel the urge to urinate, but can only empty their bladder drop by drop. Sometimes there is also incontinence.

Diagnosis & course of disease

Diagnosing spastic paraplegia is not always easy. So far, the disease can only be detected by a positive genetic test. There are no other technical diagnostic options. For this reason, the examining doctor first deals with the medical history of the patient and then carries out a clinical-neurological examination. An examination of the cerebrospinal fluid, magnetic resonance imaging (MRI) and a neurophysiological examination can be carried out to rule out other possible diseases.

The course of spastic spinal paralysis depends on whether it is an uncomplicated or complicated form. In the uncomplicated variant, the symptoms are less pronounced. Patients often have to use a wheelchair. However, since their arms are unaffected by the disease, they are able to take care of themselves. The progression of spastic paraplegia is slow. The extent of the functional disorders varies greatly from person to person.

Complications

Uncomplicated spastic paraplegia can lead, among other things, to sensory disturbances in the legs and feet. Patients sometimes also suffer from mild bladder emptying disorders, which in turn are associated with complications. The complicated form can have serious health consequences. Those affected typically suffer from disorders of the peripheral nerves, epilepsy or dementia.

Eye diseases and ataxia are also conceivable. In general, the twitches are also associated with an increased risk of injury. Mobility is usually limited, so that patients in the later stages of the disease are often dependent on a wheelchair. The extent of the functional disorders varies greatly from person to person and can range from slight limitations to complete immobility. There are usually no major complications during treatment.

In the context of physiotherapy, it can at best lead to sore muscles and harmless tension. Serious symptoms can only occur in the case of previous diseases of the cardiovascular system or the thyroid gland. Heat therapy is more risky, as it can lead to side effects such as headaches, dizziness or even fainting. Epileptics are at risk of treatment making the condition worse.

When should you go to the doctor?

In the case of this disease, a doctor must be consulted in any case. It cannot heal on its own, so the person affected is always dependent on treatment by a doctor. In most cases, this is a hereditary disease, so that if you want to have children, genetic counseling can also be carried out to prevent the disease from being passed on to the descendants. A doctor should be consulted if the patient suffers from various emotional disorders. It can also lead to epilepsy, although most of those affected can also show symptoms of dementia.

If these symptoms occur, a doctor should always be consulted. Furthermore, sudden discomfort in the eyes or disturbances in balance can also indicate this disease and should be checked by a doctor. It is not uncommon for the disease to manifest itself in the form of sudden incontinence. A general practitioner can be consulted in the first place. Further treatment is then carried out by a specialist. It cannot be universally predicted whether this will lead to a reduced life expectancy. However, in the event of an epileptic seizure, an ambulance should be called immediately.

Treatment & Therapy

It is not possible to treat the causes of spastic paraplegia because it is a condition that is inherited genetically. Gene therapy is still researching options for an effective causal treatment. The treatment of the disease is limited to the symptoms. The patient undergoes physiotherapy exercises and receives medication. The basis of the treatment is physiotherapy. The motor functions are specifically trained.

The aim is also to prevent joint, tendon and muscle contractures that further restrict the patient’s movements. In mild cases, function-preserving physiotherapy takes place, while in complicated cases, contracture prophylaxis takes place. The Bobath method, which is used in numerous clinics, has proven itself as a therapy method. In this procedure, the spastic muscle groups are stretched evenly and slowly. The treatment is often combined with heat therapy.

Prevention

Spastic paraplegia is genetic. For this reason, there are no effective preventive measures.

Aftercare

In the case of spastic paraplegia, aftercare is very limited and depends on the form of the manifestation. Currently, no causal, only symptomatic treatment is possible. Follow-up care is mainly provided by physiotherapy. The aim is to train the motor functions through physiotherapy and to reduce further limitations in mobility.

The Bobath method in particular is considered to be promising, as it involves a slow stretching of the muscle groups. Heat therapy is often used alongside physiotherapy. Dangerous situations should be avoided in everyday life, especially in those affected with epileptic seizures or cognitive impairments. In severe cases, it may be necessary for the person to need help in everyday life. Walking aids or wheelchairs are also recommended for balance disorders.

In some cases, psychological support is advisable to promote well-being and prevent possible depression. Regular appointments with a specialist to check the disease are also important. In some cases, the patient receives special drug treatment with antispastic oral medication or continuous infusions. Since there can also be problems with emptying the bladder, special hygiene items are necessary.

Spastic paraplegia is an incurable disease and limits the quality of life. It cannot generally be said that life expectancy is reduced, as this depends on the degree of the disease.

You can do that yourself

In everyday life, it is particularly important that those affected do not expose themselves to any additional dangers. In the case of those affected in particular, where a sporadic occurrence of the symptoms is perceived, care should be taken to ensure that they always have help nearby. In the case of an epileptic seizure disorder, the person concerned should not expose themselves to any dangerous situation. Risky situations should be identified and avoided in everyday life if possible.

If cognitive losses occur, measures must also be taken that do not cause disorientation or fear in everyday life. In the case of visual impairments, special care is required so that the person concerned is not exposed to accidents or experiences dangerous situations. As soon as the first irregularities appear, it is particularly important to remain calm. Bystanders must be informed and measures to help should be initiated.

Hygiene items can be used to protect against wetting. This prevents possible situations of shame. In the case of balance disorders, the use of walking aids is advisable. Hectic situations should be avoided. Sports activities must be adapted to the possibilities of the organism. It is particularly important to promote well-being in a targeted manner and to support joie de vivre through leisure activities. Withdrawing from participation in social and societal life can trigger secondary diseases that should be counteracted in good time.

Spastic Paraplegia