Hereditary spastic paraplegia (HSP) is a rare genetic disorder that affects the nervous system, causing weakness and stiffness in leg muscles. It can be classified as pure or complicated, with additional nervous system problems in the latter. Diagnosis involves physical and neurological exams, family history, and additional tests. Treatment includes physical therapy and medication.
Hereditary spastic paraplegia (HSP), also known as Strumpell-Lorrain disease, familial spastic paraparesis, and spastic paraplegia, belongs to a group of rare genetic disorders that affect the nervous system. Patients commonly experience a gradual but ongoing development of weakness and spasticity or stiffness of the leg muscles. It was first noticed by a German neurologist, Dr Strumpell, in 1883, and was later explained in more detail by two Frenchmen named Charcot and Lorrain. Symptoms can begin at any age, but most commonly between the ages of 20 and 40.
The brain usually sends signals to parts of the body through nerve cells and nerve fibers. In hereditary spastic paraplegia, there is often a gradual deterioration of the nerves that control the leg muscles. Mild symptoms may also occur in the arms and other upper body muscles, although very rarely.
There are two general classifications of hereditary spastic paraplegia: the pure or uncomplicated type and the complex or complicated type. In uncomplicated hereditary paraplegia, patients usually experience primarily muscle weakness and stiffness in the legs. At first, patients may have difficulty walking, climbing stairs, or balancing. Some patients may have severe symptoms and may eventually need to use walking devices or wheelchairs as the disease continues to progress. Others may also complain of urinary problems and decreased sensation in their feet.
Patients with complicated hereditary spastic paraplegia often experience similar symptoms in their legs, but usually have additional nervous system problems. These include speech and hearing impairments, memory loss, mental retardation or learning disabilities, and epilepsy. Epilepsy is a brain disease that causes seizures.
Neurologists, doctors who specialize in disorders of the brain and nervous system, often diagnose and treat people with hereditary spastic paraplegia. Thorough physical and neurological exams are usually done. A patient’s family history is also often taken into consideration. Additional tests, such as magnetic resonance imaging (MRI), cerebrospinal fluid (CSF) analysis, and evoke potential tests may also be performed. Evoked potential testing usually evaluates the patient’s nervous responses to stimuli.
Treatment of patients with hereditary spastic paraplegia often involves regular physical therapy. During physical therapy, patients are guided to perform exercises that strengthen muscles, reduce fatigue, and maintain range of motion (ROM). Medications may also be given to relieve stiffness and urinary symptoms.
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