What is Hereditary Spastic Paraplegia?

Hereditary spastic paraplegia (HSP), also referred to 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, yet continuous development of weakness and spasticity or stiffness of the muscles of the legs. It was first noted by a German neurologist, Dr. Strumpell, in 1883, and was later explained in more detail by two Frenchmen named Charcot and Lorrain. Symptoms may start at any age, but more commonly between the ages of 20 and 40.

The brain usually sends signals to body parts through the nerve cells and nerve fibers. In hereditary spastic paraplegia, there is often a gradual deterioration in the nerves that control the muscles of the legs. 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 mostly muscle weakness and stiffness in the legs. At the start, patients may find it difficult to walk, climb stairs, or balance themselves. 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 the feet.

Patients with complicated hereditary spastic paraplegia often experience similar symptoms in the legs, but they usually have additional nervous system problems. These include speech and hearing disorders, memory loss, mental retardation or learning disabilities, and epilepsy. Epilepsy is a disorder in the brain that causes seizure attacks.

Neurologists, doctors who specialize in brain and nervous system disorders, often diagnose and treat individuals with hereditary spastic paraplegia. Thorough physical and neurological examinations are usually done. A patient's family history also is frequently taken into consideration. Additional tests may also be performed, such as magnetic resonance imaging (MRI), cerebrospinal fluid (CSF) analysis, and evoke potential testing. The evoke potential testing usually evaluates the patient's nerve 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 the muscles, decrease fatigue, and maintain range of motion (ROM). Medications may also be given to relieve stiffness and urinary symptoms.