Hereditary spastic paraplegia

HSPs are considered rare diseases, with symptoms that may begin from childhood to adulthood, depending on the genetic type. Neurologically, the primary problem is a progressive degeneration or dysfunction of the nerve pathways that run from the brain to the spinal cord, which are responsible for controlling limb movement and mainly affect the legs.

There are different forms of HSPs, sometimes classified as “pure” and “complex” types. In the pure forms, the symptoms are mainly limited to difficulty walking due to stiffness in the lower limbs. In the complex forms, in addition to paraparesis, other neurological symptoms or involvement of other organs may occur. To date, more than 80 genes have been identified in which mutations can cause HSPs. This explains the variability within HSPs, although each genetic type may present differently in each patient or family.

Although HSPs share the characteristic of leg spasticity with cerebral palsy, they are a distinct condition. In HSPs, there is no fixed brain injury present at birth, but rather a genetic alteration that causes a slow and progressive development of symptoms, which can sometimes be difficult to detect.

Symptoms

The main symptom of HSPs is progressive difficulty walking, caused by a combination of muscle weakness and spasticity in the legs. The most common signs and symptoms are:

• Gait disturbances.
• Spasticity and increased reflexes.
• Muscle weakness, predominantly in the legs.
• In more severe cases, involvement of the arms.
• Sphincter control is preserved in most cases, although urinary or bowel difficulties may occur.
• Additional neurological symptoms in complex forms (such as ataxia, visual or auditory disturbances, epilepsy, cognitive impairment, etc.).

Who is affected by the condition?

HSPs can affect people of any age, although symptoms usually begin in childhood or adolescence. Both men and women can be affected by the condition.

Diagnosis

Diagnosis involves several tests, which you can find here, and include:

• Clinical history and neurological examination.
• Brain and spinal magnetic resonance to rule out other causes.
• Molecular genetic testing to confirm the causative mutation.
• Neurophysiological or ophthalmological assessments.

At Vall d’Hebron University Hospital, patients benefit from the most advanced genetic sequencing techniques to achieve a precise molecular diagnosis quickly and efficiently. However, a proportion of patients still remain undiagnosed. That is why we are engaged in research to try to diagnose all cases and participate in international registries and projects aimed at improving the clinical assessment of patients.

You can view the HSP diagnosis infographic here.

Typical treatment

Monitoring of the disease includes:

• Regular assessment of clinical progression using specific scales. In addition, there are clinical scales for children before adolescence.
• Involvement of a multidisciplinary team, with Rehabilitation and Orthopaedic Surgery as key collaborators.
• Psychological and social support.
• Health education and adaptation to daily activities.

Currently, there is no cure, but multiple treatments are available to improve symptoms and quality of life:

• Physiotherapy and rehabilitation.
• Targeted botulinum toxin injections into the most affected muscles.
• Pharmacological treatment with oral muscle relaxants (baclofen, tizanidine, etc.) or other medications to manage symptoms.
• Orthoses and assistive devices.
• Advanced surgical treatments such as intrathecal baclofen pump implantation or selective dorsal rhizotomy.

The hospital offers cutting-edge surgical techniques and access to clinical trial units, enabling patients with HSPs to benefit from experimental therapies and innovative treatments.

HSPs can present at different stages of life and are chronic conditions that require long-term monitoring. At Vall d’Hebron Hospital, lifelong follow-up is ensured from the prenatal period through to adulthood. At the Paediatric Neurology and Neurology departments, we support patients through coordinated care with various units and departments across the Hospital. We also collaborate in research and ensure a smooth and effective transition through joint consultations and efficient communication. We also collaborate with patient associations to support research and raise public awareness about these conditions.

Discover more about the disease in this video: