Spastic paraplegia 6
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| Spastic paraplegia 6 | |
|---|---|
| Other names | SPG6, Familial spastic paraplegia autosomal dominant 3, FSP3[1] |
| Specialty | Medical genetics |
| Symptoms | Neurological |
| Usual onset | Birth |
| Duration | Lifelong |
| Types | Pure and Complex |
| Causes | Genetic mutation |
| Prevention | None |
| Prognosis | Medium |
| Frequency | rare, only 73 cases have been described in medical literature |
| Deaths | - |
Spastic paraplegia 6 is a rare type of hereditary spastic paraplegia characterized by muscle tone and bladder anomalies associated with pes cavus and specific hyperreflexia.
People with spastic paraplegia 6 generally start showing symptoms during their late teenage years or early adulthood, the symptoms are spasticity affecting the lower limbs, hyperreflexia, high-arched feet (pes cavus), and mild bladder problems.[2][3]
Less common symptoms include epilepsy, peripheral neuropathy of variable degrees, and memory problems.[3][2]
Complications
There are various complications related to the symptoms of SP6
For example, the pes cavus deformity can cause claw toes, hindfoot deformity, big toe cockup deformity, and plantar fascia contractures.[4] The spasticity can cause chronic pain, joint deformities, chronic constipation and pressure-associated sores,[5] etc.
Types
Treatment
Treatment is focused on the symptoms themselves.