Autosomal dominant hereditary spastic paraplegia

A pure form of hereditary spastic paraplegia characterized by adult onset of crural spastic paraparesis, hyperreflexia, extensor plantar responses, proximal muscle weakness, mild muscle atrophy, decreased vibration sensation at ankles, and mild urinary dysfunction.

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Is hereditary spastic paraplegia autosomal dominant or recessive?
Is spastic paraplegia 57 autosomal recessive?
What is the life expectancy with hereditary spastic paraplegia?
Is spastic paraplegia type 35 autosomal recessive?
What is autosomal dominant spastic paraplegia type 4?
Which neuromuscular disease is autosomal dominant?
What is autosomal recessive spastic paraplegia type 54?
What is autosomal recessive spastic paraplegia type 50?

Is hereditary spastic paraplegia autosomal dominant or recessive?

A pure form of hereditary spastic paraplegia characterized by adult onset of crural spastic paraparesis, hyperreflexia, extensor plantar responses, proximal muscle weakness, mild muscle atrophy, decreased vibration sensation at ankles, and mild urinary dysfunction.

Is spastic paraplegia 57 autosomal recessive?

Mutations in the SPG4 gene (spastin protein) are responsible for approximately 40% of autosomal dominant HSP cases. 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.

What is the life expectancy with hereditary spastic paraplegia?

Autosomal recessive spastic paraplegia type 57 (SPG57) is an extremely rare, complex type of hereditary spastic paraplegia, characterized by onset in infancy of pronounced leg spasticity (leading to the inability to walk independently), reduced visual acuity due to optic atrophy, and distal wasting of the hands and ...

Is spastic paraplegia type 35 autosomal recessive?

Some children with AP-4-HSP have reached their early 20s, but long-term life expectancy for this condition is still unclear, as it was only first recognized in 2011. However, many children with hereditary spastic paraplegias in general have a normal life expectancy.

What is autosomal dominant spastic paraplegia type 4?

Autosomal recessive spastic paraplegia type 35 is a rare form of hereditary spastic paraplegia characterized by childhood (exceptionally adolescent) onset of a complex phenotype presenting with lower limb (followed by upper limb) spasticity with hyperreflexia and extensor plantar responses, with additional ...

Which neuromuscular disease is autosomal dominant?

SPG4 is an autosomal dominant disorder caused by mutations in the SPAST gene. Mutations in the SPAST gene disrupt the production of spastin, which is necessary for the regulation of microtubules. There are two major types of SPG4, the pure type and the complex type.

What is autosomal recessive spastic paraplegia type 54?

Two common examples of autosomal dominant neuromuscular diseases are Charcot-Marie-Tooth disease type 1A (CMT1A) and myotonic dystrophy type 1 (DM1). Another way to inherit a genetic neuromuscular disease is called autosomal recessive inheritance, which requires two mutations – typically one from each parent.

What is autosomal recessive spastic paraplegia type 50?

Autosomal recessive spastic paraplegia type 54 (SPG54) is a rare, complex form of hereditary spastic paraplegia characterized by the onset in early childhood of progressive spastic paraplegia associated with cerebellar signs, short stature, delayed psychomotor development, intellectual disability and, less commonly, ...