What gene causes spastic paraplegia?

What gene causes spastic paraplegia?

Mutations in the SPG7 gene cause spastic paraplegia type 7. The SPG7 gene provides instructions for producing a protein called paraplegin.

Is HSP inherited?

The hereditary spastic paraplegias (HSP) are a large group of inherited neurologic disorders that share the primary symptom of difficulty walking due to muscle weakness and muscle tightness (spasticity) in the legs. There are more than 80 different genetic types of HSP.

What is hereditary spastic paralysis?

Hereditary spastic paraplegia is a general term for a group of rare inherited disorders that cause weakness and stiffness in the leg muscles. Symptoms gradually get worse over time. It’s also known as familial spastic paraparesis or Strümpell-Lorrain syndrome.

What disease causes spastic paralysis?

It is a symptom associated with damage to the brain, spinal cord or motor nerves, and is seen in individuals with neurological conditions, such as: Cerebral palsy (CP) Multiple sclerosis (MS) Stroke.

When does hereditary spastic paraplegia start?

Symptoms of HSP may begin at any age, from infancy to older than 60 years. If symptoms begin during the teenage years or later, then spastic gait disturbance usually progresses insidiously over many years. Canes, walkers, and wheelchairs may eventually be required.

Is Hereditary spastic paraplegia progressive?

Hereditary spastic paraplegia (HSP), also called familial spastic paraparesis (FSP), refers to a group of inherited disorders that are characterized by progressive weakness and spasticity (stiffness) of the legs. Early in the disease course, there may be mild gait difficulties and stiffness.

Does HSP run in families?

It occurs more often in boys. The disease can happen in siblings of the same family. Most children with HSP recover fully. But some children may have kidney problems.

Is Hereditary spastic paraplegia autosomal dominant or recessive?

SPG13 HSP is an autosomal dominant form of uncomplicated HSP mapped to chromosome 2q24-34.

What does spastic paraparesis mean?

Definition. Hereditary spastic paraplegia (HSP), also called familial spastic paraparesis (FSP), refers to a group of inherited disorders that are characterized by progressive weakness and spasticity (stiffness) of the legs. Early in the disease course, there may be mild gait difficulties and stiffness.

Is spastic paraparesis a disability?

HSP refers to a group of inherited neurologic disorders that cause progressive weakness and spasticity, or stiffness, in the lower extremities, mostly the leg and hip muscles. The long-term prognosis for people diagnosed with HSP varies: Some become very disabled, while others experience only mild disability.

Is spastic paraplegia progressive?

Is spastic paraplegia dominant or recessive?

Hereditary spastic paraplegia due to SPG4 gene mutation is the single most common form of autosomal dominant HSP, and possibly the single most common form of any type of HSP.