How to Identify Hereditary Spastic Paraplegia

Hereditary spastic paraplegia (HSP) is otherwise known as familial spastic paralysis. This refers to a group of disorders that are genetic in nature and exhibit the same primary characteristics of spasticity (stiffness) and weakness of the lower extremities (including the hip abductor muscles). The onset of this disease occurs gradually, and becomes increasingly worse over time, especially without the aid of proper treatment. Existence of symptoms vary in every individual, even for those who are in the same family. And its symptoms may occur at any age from infancy to late adulthood. Most of the patients suffer the onset of their symptoms during the second to the fourth decades of life. There are two classifications of hereditary spastic paraplegia (HSP): the uncomplicated or pure type and the complicated or complex type. In the uncomplicated type, the impairment is usually limited in the lower body. The complicated type exhibits the symptoms of the uncomplicated type along with other neurologic findings. Read on to identify more specific features of hereditary spastic paraplegia.

Instructions

Symptoms of Hereditary Spastic Paraplegia

• 1

  Expect a delay in the ability to walk. This is mostly rare and is noticeable on patients with childhood onsets.

• 2

  Existence of progressive leg muscle weakness affects the patients’ ability to walk. As the spine undergoes degeneration, muscles around the legs (such as those that flex the feet, knees, and thigh) gradually weaken. The degree of weakness varies from person to person. Some patients have enough strength to not require any assistive devices, while others immediately become too weak that wheelchair is needed for mobility.

• 3

  Weakness in the lower extremity muscles can lead to abnormal ambulation. The patient can have difficulty in lifting toes up during push-off, which results in dragging of toes while walking.

• 4

  Hypertonicity (increased tone) and spasticity of muscles will soon occur in the later stage of spinal degeneration. There will be increased stiffness in the lower leg muscles and thigh muscles (inner and outer thighs).

• 5

  Increased rigidity combined with weakness will lead to a more prominent functional impairment. The individual will experience a hard time flexing the thigh muscles to raise the leg during walking. There will be constant uncontrollable shaking of the legs while walking which will lead to a scissoring gait with frequent falls and tripping, especially when walking in an uneven ground or floor.

• 6

  Decrease state of balance is common and is mostly one of the early visible signs of hereditary spastic paraplegia. Due to degeneration of the spine, brain signals are not transmitted accurately anymore, impairing the sense of position of the lower extremities. All of these eventually lead to disturbance of the patient’s balance in stance and walkiing.

• 7

  Sudden dorsiflexion of the foot (foot is bent upward) during gait, results to a continuous spastic contraction of calf muscles, which then lead to clonus or repetitive and uncontrollable jerking of the foot. Frequent cramping of the leg is also experienced secondary to repetitive contraction of spastic muscles.

• 8

  Note the presence of high arched feet (pes cavus), due to weakness in the muscles of the foot that flatten the arch. Other problems such as reduced sensation or numbness of the muscles below knee level and decrease vibration sense of the feet may also develop.

• 9

  Occurrence of atrophy (decrease in muscle size) may be possible if muscles are immobilized most of the time. This case is primarily common to people who must use wheelchairs.

• 10

  Bladder dysfunction commonly occurs in the later stage of uncomplicated type of hereditary spastic paraplegia. It starts with an uncontrollable urge of urination then progressively worsens to inability to control urination.

• 11

  Existence of neurologic problems occur along with complicated hereditary spastic paraplegia. It includes the following: mental retardation, dementia, epilepsy, peripheral and optic neuropathy, deafness, dryness and scaling of the skin, speech problems and difficulty in swallowing and breathing.