Is Hereditary spastic paraplegia autosomal dominant or recessive?
Is Hereditary spastic paraplegia autosomal 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.
Is Hereditary spastic paraplegia a neuromuscular disorder?
The disease presents with progressive stiffness (spasticity) and contraction in the lower limbs. HSP is also known as hereditary spastic paraparesis, familial spastic paraplegia, French settlement disease, Strumpell disease, or Strumpell-Lorrain disease….
| Hereditary spastic paraplegia | |
|---|---|
| Specialty | Neurology |
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.
Can HSP affect the brain?
Inflammatory changes associated with HSP can also develop in the joints, kidneys, digestive system, and, in rare cases, the brain and spinal cord (central nervous system). In one form of the disorder, termed Schönlein’s purpura, the skin and joints are affected but the gastrointestinal tract is not.
Is familial 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.
What does it mean to have hereditary spastic paraplegia?
Hereditary Spastic Paraplegia is a genetic recessive disease. What Is Hereditary Spastic Paraplegia? Hereditary Spastic Paraplegia or Strumpell-Lorraine Syndrome as stated is a collection of inherited neurological disorders in which there is gradual weakness of the leg muscles along with increased muscle tone and spasticity.
How many different types of spastic paraplegia are there?
What is HSP? Hereditary Spastic Paraplegia (HSP) is a group of rare, inherited neurological disorders. Their primary symptoms are progressive spasticity and weakness of the leg and hip muscles. Researchers estimate that some 90 different types of HSP exist; the genetic causes are known for about fifty.
Who is the founder of Spastic Paraplegia Foundation?
Others are Spastic Paraplegia, Hereditary Charcot-Disease, Spastic Spinal Paralysis, Diplegia Spinalis Progressiva, French Settlement Disease, Troyer syndrome, and Silver syndrome. The disorder was first identified in the late 1800s by A. Strümpell, a neurologist in Heidelberg, Germany.
How is hereditary spastic paraplegia and Strumpell Lorraine syndrome related?
Studies suggest that Hereditary Spastic Paraplegia or Strumpell-Lorraine Syndrome is caused by mutations of different genes. In majority of cases of Hereditary Spastic Paraplegia, these mutations tend to be transmitted in an autosomal dominant fashion. In very rare cases, these mutations are transmitted in an autosomal recessive fashion.
