From the Research
Intrathecal baclofen (ITB) is the most effective treatment for managing spasticity in hereditary spastic paraparesis type 1 (HSP-1), as it has been shown to improve spasticity and stabilize mobility functions for up to 6-8 years, with a mean baclofen dosage of 188 μg per day at steady state post-implantation. Hereditary spastic paraparesis type 1 (HSP-1) is a genetic neurological disorder characterized by progressive stiffness and weakness in the lower limbs. It is caused by mutations in the SPAST gene, which encodes the protein spastin that is important for maintaining the structure of nerve cells. There is currently no cure for HSP-1, but treatment focuses on symptom management.
Treatment Options
- Physical therapy is the cornerstone of treatment, helping to maintain muscle strength, prevent contractures, and improve mobility.
- Medications such as baclofen (starting at 5mg three times daily, gradually increasing to 20-25mg three times daily as tolerated), tizanidine (2-4mg three times daily), or dantrolene (25-100mg three times daily) may be prescribed to reduce muscle spasticity.
- Botulinum toxin injections can also be used for focal spasticity, as shown in a study published in the European journal of neurology 1.
- Assistive devices like ankle-foot orthoses, canes, or walkers may help with mobility.
Intrathecal Baclofen
The use of ITB has been evaluated in several studies, including a case series published in the European journal of paediatric neurology, which found that ITB was associated with a reduction in spasticity and a trend towards improvement in patient-reported quality of life and achievement of personalised goals 2. Another study published in Frontiers in neurology found that ITB improved spasticity and stabilized mobility functions for up to 6-8 years, with a mean baclofen dosage of 188 μg per day at steady state post-implantation 3.
Genetic Counseling
Genetic counseling is important for affected individuals and their families, as HSP-1 follows an autosomal dominant inheritance pattern, meaning each child of an affected person has a 50% chance of inheriting the condition. Regular follow-up with a neurologist is essential to monitor disease progression and adjust treatment as needed. A systematic review of the literature on the treatment of HSP found that there is currently no adequate evidence base for recommending the various published therapies, and well-designed RCTs are needed to evaluate the efficacy of both symptomatic and pathogenetic treatments 4.