Spastic paraplegia 31

Alternate names

SPG31; Spastic paraplegia 31, autosomal dominant

Definition

A rare type of hereditary spastic paraplegia usually characterized by a pure phenotype of proximal weakness of the lower extremities with spastic gait and brisk reflexes, with a bimodal age of onset of either childhood or adulthood (>30 years). In some cases, it can present as a complex phenotype with additional associated manifestations including peripheral neuropathy, bulbar palsy (with dysarthria and dysphagia), distal amyotrophy, and impaired distal vibration sense.

Cause

Spastic paraplegia type 31 is caused by mutations in the REEP1 gene. This gene provides instructions for making a protein called receptor expression-enhancing protein 1 (REEP1), which is found in neurons in the brain and spinal cord.

Inheritance

Autosomal dominant pattern, a 50/50 chance.

Spastic paraplegia type 3A is inherited in an autosomal dominant pattern.

Onset

The first signs and symptoms of spastic paraplegia type 31 usually appear before age 20 or after age 30.

Signs and symptoms

• This condition is characterized by a pure phenotype of proximal weakness of the lower extremities with spastic gait and brisk reflexes, with a bimodal age of onset of either childhood or adulthood (>30 years).
• In some cases, it can present as a complex phenotype with additional associated manifestations including peripheral neuropathy, bulbar palsy (with dysarthria and dysphagia), distal amyotrophy, and impaired distal vibration sense.

For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. 80%-99% of people have these symptoms

• Brisk reflexes
• Proximal muscle weakness in lower limbs
• Spastic gait(Spastic walk)

30%-79% of people have these symptoms

• Difficulty running
• Difficulty walking(Difficulty in walking)
• Distal sensory impairment(Decreased sensation in extremities)
• Hyperreflexia in upper limbs
• Impaired proprioception
• Lower limb hyperreflexia(Overactive lower leg reflex)
• Pes cavus(High-arched foot)
• Proximal lower limb amyotrophy(Wasting of thigh muscle)

5%-29% of people have these symptoms

• Bulbar signs
• Dysarthria(Difficulty articulating speech)
• Dysphagia(Poor swallowing)
• Hand muscle weakness
• Spastic tetraparesis
• Urinary urgency(Overactive bladder)

NIH genetic and rare disease info

• NIH info on Spastic paraplegia 31

Spastic paraplegia 31 is a rare disease.