Spastic Paraplegias: Causes, Symptoms & Treatment

Spastic paraplegias are neurodegenerative disorders. They arise either through heredity or occur spontaneously.

What are spastic paraplegias?

Spastic paraplegias (SPG) is the name for several neurodegenerative diseases. Medical professionals also call them spastic spinal paraplegias. The diseases are divided into spontaneous and hereditary forms. Hereditary spastic paraplegias are called Strümpell-Lorrain syndrome or hereditary spastic paraplegia (HSP). These are genetically heterogeneous diseases triggered by mutations in various genes. Spastic paraplegia is manifested by 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 of hereditary spastic paraplegia. Physicians refer to them as spastic paraplegia genes (SPG). They are classified into the numbers 1 to 48. Depending on the form, the inheritance takes a different course. Thus, a distinction is made between an autosomal recessive, an autosomal dominant and an x-linked form of inheritance. 23 genes are affected by mutations. Spastic paraplegia occurs rarely and is seen in ten out of 100,000 people. Spastic spiral paraplegia does not represent a single disease. Instead, it forms a group of different diseases that result in stiffening of the leg muscles of affected individuals. In recent years, scientists have managed to track down several genes that are linked to spastic paraplegia. Even the products whose production is carried out by these genes could be discovered. As a result, there is hope to understand the disease processes, which are not yet well understood, and to develop appropriate therapies capable of ending the insidious disease.

Symptoms, complaints and signs

Divided into an uncomplicated as well as a complicated form are spastic paraplegias. In the uncomplicated form, patients suffer from mild sensory disturbances in the legs and feet in addition to a spastic increase in tone within the leg muscles. Mild bladder emptying disorders may also occur. The complicated form is less common. In this form, patients often also suffer from epilepsy, peripheral nerve disorders, eye diseases, impaired target movements (ataxia) or dementia. The first symptoms of spastic paraplegia may appear between childhood and old age. In most cases, however, they become noticeable between the second and fourth decades of life. Initially, there is stiffness in the legs, which is followed by disturbances in balance and gait. The symptoms are due to a spastic increase in tone. This leads to the affected person no longer being able to move his or her limbs as easily as in a healthy state. In this case, the leg stretches at the knee-hip joint, while the foot is pushed in the lower direction within the ankle joint. As a result, patients find it more difficult to walk and stumble more frequently. In the worst case, the patient becomes dependent on a wheelchair as the disease progresses. In uncomplicated spastic paraplegia, only minor strength restrictions occur. A slight muscular atrophy is seen in the legs. Vibration sensation and position sense are also impaired in the lower legs and feet. About 30 to 40 percent of all patients suffer from bladder emptying disorders. They experience a frequent urge to urinate, but can only empty their bladder drop by drop. Sometimes incontinence also occurs.

Diagnosis and course of the disease

Diagnosis of spastic paraplegia is not always easy. For example, to date, the disease can only be detected by positive genetic testing. There are no other technical diagnostic options. For this reason, the examining physician first looks at the patient’s medical history and then performs a clinical-neurological examination. To exclude other possible diseases, an examination of the nervous fluid, a magnetic resonance imaging (MRI) and a neurophysiological examination can take place.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 not affected by the disease, they are capable of self-care. The progression of spastic paraplegia is slow. The extent of functional impairment varies greatly from individual to individual.

Complications

Uncomplicated spastic paraplegia may cause sensory disturbances in the legs and feet, among other symptoms. Patients sometimes also suffer from mild bladder voiding dysfunction, which in turn is associated with complications. The complicated form can have serious health consequences. Typically, those affected suffer from peripheral nerve disorders, epilepsy or dementia. Eye disease and ataxia are also possible. In general, the twitches are also associated with an increased risk of injury. Mobility is mostly limited, so that patients are often dependent on a wheelchair in the later stages of the disease. The extent of functional impairment varies greatly from individual to individual and can range from mild limitations to complete immobility. In most cases, no major complications occur during treatment. In the course of physiotherapy, sore muscles and harmless tension may occur at most. Only in the case of pre-existing diseases of the cardiovascular system or the thyroid gland, serious complaints can occur. More risky is heat therapy, in the course of which side effects such as headaches, dizziness or even fainting can occur. In epileptics, there is a risk that the treatment may aggravate the disease.

When should you see a doctor?

In any case, a doctor must be consulted for this disease. There can be no independent cure in this case, so the affected person is therefore always dependent on treatment by a doctor. In most cases, this is a hereditary disease, so that if a person wishes to have children, genetic counseling can be performed to prevent the disease from being passed on to descendants. A doctor should be consulted if the patient suffers from various sensory disturbances. Epilepsy may also occur, and most affected individuals may also show symptoms of dementia. If these complaints occur, a doctor should always be consulted. Furthermore, sudden complaints of the eyes or disturbances of the balance can also indicate this disease and should be checked by a doctor. Not infrequently, the disease is also manifested by a sudden onset of incontinence. In this case, a general practitioner can be consulted in the first instance. Further treatment is then carried out by a specialist. Whether this results in a reduced life expectancy cannot be universally predicted. However, in the event of an epileptic seizure, an emergency physician should be called immediately.

Treatment and therapy

It is not possible to treat the causes of spastic paraplegia because it is a condition that is genetically inherited. Gene therapy is still researching options for an effective causal treatment. Thus, the therapy of the disease is limited to the symptoms. Here, the patient undergoes physiotherapeutic exercises and receives medication. The basis of treatment is physiotherapy. Here, the motor functions are trained in a targeted manner. Furthermore, the aim is to prevent contractures of joints, tendons and muscles from occurring, which further restrict the patient’s movements. In mild cases, function-preserving physiotherapy takes place, while in complicated cases, contracture prophylaxis is used. The Bobath method, which is used in numerous clinics, has proven itself as a therapy method. In this method, a steady and slow stretching of the spastic muscle groups takes place. The treatment is often combined with heat therapy.

Prevention

Spastic paraplegias are genetically determined. For this reason, there are no effective preventive measures.

Follow-up care

In spastic paraplegia, follow-up is very limited and depends on the form of expression. Currently, no causal treatment is possible, only symptomatic treatment. Follow-up care in this case is primarily through physical therapy.The aim is to train motor functions through physiotherapy and to reduce further restriction of mobility. The Bobath method in particular is considered promising, as it involves slow stretching of the muscle groups. Heat therapy is also often used to accompany physiotherapy. Dangerous situations should be avoided in everyday life, especially for patients with epileptic seizures or cognitive impairments. Here, in severe cases, it may be necessary for the person to require assistance in everyday life. Furthermore, walking aids or wheelchairs are advised in case of balance disorders. In some cases, psychological support is advisable to promote well-being and prevent possible depression. Regular appointments with a specialist to monitor the disease are also important. In some cases, the sufferer receives special drug treatment with antispastic oral medications or continuous infusions. Since, on top of that, there can be disturbances in the emptying of the bladder, special hygiene articles are necessary. Spastic paraplegia is a non-curable disease and limits the quality of life. It is not possible to speak generally of a reduced life expectancy, as this depends in each case on the degree of the disease.

What you can do yourself

In everyday life, it is particularly important that the affected person does not expose himself to additional dangers. Particularly in the case of affected persons in whom a sporadic occurrence of the symptoms is perceived, care should be taken to ensure that they always have help close at hand. In the case of an epileptic seizure disorder, the affected person should not expose himself to any hazardous situation. Situations involving risk should be identified and, if possible, avoided accordingly in everyday life. If cognitive impairment occurs, measures should also be taken that do not cause disorientation or anxiety in everyday life. If vision is impaired, special care must be taken to ensure that the person affected is not exposed to accidents or dangerous situations. As soon as the first irregularities occur, it is particularly important to remain calm. Bystanders should be informed and measures of help should be initiated. Hygiene products can be used to protect against wetting. This prevents possible situation of shame. In case of disturbances of balance, the use of walking aids is advisable. Hectic situations should be avoided. Sport activities should be adapted to the possibilities of the organism. It is especially important to promote well-being in a targeted manner and to support the joy of life through leisure activities. Withdrawal from participation in social and community life can trigger secondary diseases, which should be counteracted in good time.