Hereditary Spastic Paraplegia (HSP)

Hereditary Spastic Paraplegia (HSP) is a group of rare, inherited neurological disorders characterised by progressive stiffness and weakness (spasticity) of the leg muscles. The term “paraplegia” refers to the involvement of the lower extremities, specifically the legs. HSP is a type of motor neuron disease that primarily affects the long nerves of the spinal cord responsible for muscle control in the lower limbs.

Key features of hereditary spastic paraplegia include:

1. Spasticity: Stiffness and increased muscle tone, particularly in the muscles of the legs, are common symptoms. This can lead to difficulty with walking and coordination.

2. Weakness: Progressive weakness in the lower limbs is a characteristic feature. Over time, individuals with HSP may experience difficulty with balance and may require assistance with walking aids or wheelchairs.

3. Gait Disturbances: As the disease progresses, individuals may develop an abnormal gait (manner of walking) characterised by dragging the feet, scissoring legs, or other abnormalities.

4. Genetic Basis: HSP is a genetic disorder, and it can be inherited in an autosomal dominant, autosomal recessive, or X-linked manner. Several genes associated with HSP have been identified, and mutations in these genes can lead to the development of the condition.

5. Heterogeneity: HSP is a heterogeneous disorder, meaning that it can present with a variety of clinical symptoms and severity levels. Different subtypes of HSP may exist based on the specific genetic mutation involved.

6. Onset and Progression: The age of onset and rate of disease progression can vary widely among individuals with HSP. Symptoms often start gradually and worsen over time.

While there is currently no cure for hereditary spastic paraplegia, management focuses on alleviating symptoms and improving the individual’s quality of life. This may involve physical therapy to address spasticity and maintain mobility, assistive devices like braces or orthopedic shoes, and medications to manage symptoms. Genetic counseling is also an essential component, especially for families with a history of HSP, to understand the risk of inheritance and provide information about family planning.

Hereditary spastic paraplegia (HSP) is primarily caused by genetic mutations that affect the function of certain genes. Numerous genes have been associated with HSP, and these genes play a role in the normal functioning of neurons, particularly those involved in the control of movement. The mutations disrupt the normal structure or function of these genes, leading to the development of spasticity and weakness in the lower limbs.

HSP is a genetically heterogeneous disorder, meaning that it can result from mutations in various genes, and different genetic subtypes of HSP have been identified. The inheritance pattern can be autosomal dominant, autosomal recessive, or X-linked.

The specific symptoms and severity of HSP can vary depending on the underlying genetic mutation. Generally, these mutations lead to the degeneration of the long nerve fibers (axons) in the spinal cord, which are essential for transmitting signals that control muscle movement.

It’s important to note that not all cases of spastic paraplegia are hereditary, and some cases can be caused by acquired factors such as metabolic disorders, infections, or other neurological conditions. However, when HSP is hereditary, it is most commonly caused by genetic mutations that are passed down through families. Genetic testing is often used to identify the specific gene mutation associated with an individual’s HSP.

Diagnosis of Hereditary Spastic Paraplegia (HSP) involves the following: 

  • Clinical Evaluation
  •  Genetic Testing
  • Neuroimaging
  • Electrophysiological Studies:

Prognosis of Hereditary Spastic Paraplegia:

The prognosis for individuals with HSP can vary widely based on factors such as the specific genetic subtype, the age of onset, and the severity of symptoms. Generally, HSP is a progressive condition, meaning that symptoms tend to worsen over time. However, the rate of progression can be variable.

1. Mild Cases:
– Some individuals may have relatively mild symptoms that progress slowly over many years. In these cases, individuals may retain mobility and independence for an extended period.

2. Moderate to Severe Cases:
– Others may experience more significant disability and challenges with mobility, requiring assistive devices or mobility aids. The progression of symptoms can impact activities of daily living.

3. Complications:
– Complications may arise over time, including contractures (permanent shortening of muscles or tendons), joint deformities, and difficulties with bladder or bowel function.

4. Quality of Life:
– Despite the progressive nature of HSP, individuals often maintain a good quality of life with appropriate management strategies, including physical therapy, assistive devices, and symptom-targeted medications.

5. Research and Treatment:
– Ongoing research into the genetics and underlying mechanisms of HSP may lead to future therapeutic interventions. Clinical trials and studies are exploring potential treatments to slow disease progression or alleviate symptoms.

It’s important for individuals with HSP to work closely with a healthcare team, including neurologists, physical therapists, and genetic counselors, to manage symptoms, optimise function, and address any potential complications. Regular follow-up appointments are essential for monitoring the progression of the condition and adjusting the management plan accordingly.

There is no cure for HSP, but therapy can help manage symptoms, so people with HSP can continue to enjoy a good quality of life.

HSP symptoms vary between individuals and depending on whether their HSP pure or complex:

Pure HSP Symptoms:

  • progressive gradual weakening in legs
  • progressive spasticity in legs
  • urinary bladder disturbance
  • abnormal gait
  • decreased balance
  • impaired sensation in feet

Complex HSP Symptoms:

  • peripheral neuropathy
  • ataxia
  • epilepsy
  • optic neuropathy/retinoipathy
  • dementia
  • visual and hearing impairments
  • speech/swallowing/breathing diffciulties
  • ichthyosis
  • developmental delay

How Can We Help?

Physiotherapy & Exercise Physiology

Physiotherapists and Exercise Physiologists will look at your mobility, balance, joint range of motion, physical endurance and muscle strength. They will then design a tailored exercise program to help you maintain, or even improve, mobility, balance, strength, cardiovascular fitness and coordination.

Physiotherapists may also make recommendations regarding mobility equipment and advise you on safe ways to keep moving to prevent falls.


Occupational Therapists will assess how well you are managing day-to-day tasks, such as, eating, dressing, cooking, or bed mobility. This means that their assessments are sometimes completed in the home environment.

Occupational Therapists can teach strategies, recommend equipment and assist with the prescription of manual and power wheelchairs, assistive technology, transfers and cushions to make your home safer and more manageable, and reduce the risk of developing a pressure area.


Speech Pathologists perform assessments and provide treatment for swallowing, motor speech, voice, and cognitive–communication disorders that may result from Hereditary Spastic Paraplegia.

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