Spastic paraplegia type 11 is part of a group of genetic disorders known as hereditary spastic paraplegias. These disorders are characterized by progressive muscle stiffness (spasticity) and the development of paralysis of the lower limbs (paraplegia).

Mar 27, 2008 · Spastic paraplegia 11 (SPG11) is characterized by progressive spasticity and weakness of the lower limbs frequently associated with the following: mild intellectual disability with learning difficulties in childhood and/or progressive cognitive decline; peripheral neuropathy; pseudobulbar involvement; and increased reflexes in the upper limbs.

Among the autosomal recessive forms of HSP (AR-HSP), hereditary spastic paraplegia type 11 is the most common one. We present a patient with diagnosed HSP 11, with a typical clinical picture and characteristic features in additional diagnostic tests.

However, the most common form of AR HSP (50%) is caused by mutation of the SPG11 gene, which leads to an uncomplicated or slightly complicated form of HSP. Distinguishing factors of AR HSP include upper extremity weakness, dysarthria (speech complications) and nystagmus [2] .

Jul 12, 2017 · 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.

Aug 15, 2000 · Clinical Characteristics and Recommended Treatment: Hereditary Spastic Paraplegia. The predominant signs and symptoms of hereditary spastic paraplegia (HSP) are lower-extremity weakness and spasticity. Neurologic examination. Individuals with HSP demonstrate the following:

Aug 22, 2024 · Hereditary spastic paraplegia is a genetic condition that causes weakness and muscle tightness in your legs. There are over 80 different types. It’s progressive and can affect your mobility. Treatment options, like medications and physical therapy, are available to help you manage symptoms as they arise. What is hereditary spastic paraplegia?

Spastic paraplegia 11 (SPG11) is the most common cause of autosomal recessive HSP and is the major cause of HSP with a thin corpus callosum (HSP‐TCC), accounting for 41% of HSP‐TCC in one study.13 This form of HSP is the result of mutations in the SPG11 (or KIAA1840) gene, encoding the spatacsin protein.14 Complicating features include ...

Hereditary spastic paraplegia type 11 (SPG11) is the most common subtype of autosomal recessive hereditary spastic paraplegia (HSP), to date, there are more than 181 different KIAA1840 gene mutations detected, and yet the genetic landscape of …

Hereditary spastic paraplegia (SPG or HSP) is characterized by progressive weakness and spasticity of the lower limbs due to degeneration of corticospinal axons. SPG11 is a form of complicated SPG, in that it has neurologic features in addition to spasticity. For a discussion of genetic heterogeneity of autosomal recessive SPG, see SPG5A (270800).