Spastic paraplegia refers to a group of neurological disorders with prominent symptoms of stiffness in the arms and legs. There are numerous types; most of them hereditary, distinguished from each other by the types of symptoms present depending on what brain structures are involved. Virtually all are progressive disorders with variable ages of onset. Most also affect the eye.
Spastic paraplegia 7 may have its onset in the second decade of life but sometimes much later. It is highly variable among families and not all individuals have the same signs and symptoms. The first symptom is usually difficulty in walking as the legs are stiff (spastic). Unsteadiness (ataxia) plays a role as well. This is a progressive condition and most patients eventually develop slurred speech, weakness (and wasting) in limb muscles, difficulty in swallowing, and sphincter control of the bladder. Most patients develop some mental impairment with attention deficits and difficulties in reasoning. Scoliosis (abnormal spinal curvature) and a highly-arched foot (pes cavus) sometimes occur. Many adults lose mobility and are confined to a wheelchair. Some patients can have a mild hearing loss.
Vision is often impaired as the optic nerve degenerates. Other eye signs include drooping of the eyelids (ptosis), difficulties in upward gaze, and nystagmus (involuntary movements of the eyes).
This condition usually occurs when both members of a gene pair are changed (mutated). The inheritance pattern is autosomal recessive. The parents, who each carry one gene mutation, are clinically normal but can expect generally that one in four of their children have this disorder.
The diagnosis is usually made by a neurologist. The MRI may show some loss of tissue in certain areas of the brain but this is nondiagnostic. Nothing is known about longevity but spastic paraplegia is a progressive disease leading to increasing disability. Speech and physical therapy may have some benefits and low vision aids in selected patients could be helpful.