Spastic Paraplegia
What is spastic paraplegia?
Spastic paraplegia is a hereditary disorder which is distinguished by a progressive gait abnormality. Over time, the lower limbs stiffen and contract. It is considered an upper motor neuron disease, as the primary neurons are the cells that are impacted. The disease can present similarly to cerebral palsy. However, the cause of the disease is distinctly different.
What are the symptoms of spastic paraplegia?
Symptoms of the disorder vary somewhat depending on the type, but typically include:
- Spasticity affecting the legs
- Bladder dysfunction
- Muscle weakness
- Abnormal gait, resulting in difficulty walking
- Paresthesia
- Loss of sensation in the legs
- Extreme fatigue
- Difficulty with balance
Symptoms can begin at any age. More complex forms may result in a broader range of symptoms, including intellectual disability, hearing loss, and optic nerve neuropathy.
What causes spastic paraplegia?
This group of genetic disorders can be inherited in a variety of patterns, depending on the type. There are autosomal dominant, autosomal recessive, and X-linked recessive forms of spastic paraplegia. 70 genotypes have been described and associated with the disorder. Mutations of the SPG4 gene accounts for 25% of all cases.
How is spastic paraplegia diagnosed?
Family history is an important component of diagnosing spastic paraplegia. A spinal and cerebral MRI is often performed to rule out more common conditions like multiple sclerosis. This can also detect corpus callosum atrophy, cerebellar atrophy, and white matter abnormalities. Differential diagnosis should exclude similar conditions like spastic diplegia. Ultimately a genetic test of known genetic mutations should also be conducted to confirm the diagnosis.
What are the treatments for spastic paraplegia?
There’s no known treatment that can cure, prevent, slow, or reverse the progression of spastic paraplegia. However, a number of medications are used to address the disease symptoms. Medications used by many patients may include:
- Diazepam and clonazepam, which can reduce spasm severity
- Tolterodine tartrate, which can treat bladder issues
- Baclofen, used to relax muscles and reduce muscle tone
- Botulinum toxin, used to reduce muscle overactivity
- Tizanidine, which can treat intermittent and nocturnal spasms
- Oxybutynin chloride, also used to treat spasms and bladder control
Antidepressants can address depression, a common problem in spastic paraplegia patients. Physical therapy can also play an important role in treatment as it can help maintain mobility and muscle strength.
