spastic paraplegia

She was born with a rare condition called Hereditary spastic paraplegia which is similar to cerebral palsy.

Offers support and information to those affected by primary lateral sclerosis and hereditary spastic paraplegia.

The paraplegin gene is responsible for an autosomal recessive form of hereditary spastic paraplegia.

This is the case in Friedreich's ataxia, hereditary spastic paraplegia, and Wilson's disease.

SPG20 is mutated in Troyer syndrome, an hereditary spastic paraplegia.

In individuals with uncomplicated (or "pure") HSP, progressive spastic paraplegia occurs as an isolated, primary finding.

Fitzsimmons and Guilbert first described male uniovular twins, aged 20 years, who had had slowly progressive spastic paraplegia from early in life.

Spastic paraplegia is a form of paraplegia defined by spasticity of the affected muscles, rather than flaccid paralysis.

Additional symptoms that may develop during infancy include involuntary muscle contractions, associated loss of muscle function (spastic paraplegia), developmental delays, and/or mental retardation.

Mutations in the SPG21 (ACP33/maspardin) gene are associated with the mast syndrome, a type of spastic paraplegia.

Point mutations in conserved regions of these proteins can be expected to cause missense mutations and translational truncations that will also lead to hereditary spastic paraplegia.

HSP is also sometimes referred to as familial spastic paraplegia (FSP) or Strumpell-Lorraine syndrome.

Together with French physician Maurice Lorrain, the eponymous Strümpell-Lorrain disease is named, which is an hereditary spastic paraplegia.

Dennie-Marfan syndrome is a syndrome in which there is association of spastic paraplegia of the lower limbs and mental retardation in children with congenital syphilis.

Mutations in this gene result in autosomal recessive spastic paraplegia, and the protein is the target for neurodegeneration induced by organophosphorus compounds and chemical warfare agents.

Laurence-Moon syndrome (LMS) is a rare autosomal recessive genetic disorder associated with retinitis pigmentosa, spastic paraplegia, hypogonadism and mental retardation.

Milder mutations of the PLP1 gene that mainly cause leg weakness and spasticity, with little or no cerebral involvement, are classified as spastic paraplegia 2 (SPG2).

For example, abnormalities in ESCRT-III components can lead to neurological disorders such as hereditary spastic paraplegia (HSP).

(The term "CRASH", for "corpus callosum hypoplasia, retardation, adducted thumbs, spastic paraplegia, and hydrocephalus" has also been used to describe L1CAM-related disorders.)

Respiratory disease and CNS dysmyelination are not part of the MASA syndrome which seems to be a form of spastic paraplegia with less severe neurological signs than found in the Amish cases.

The neurologic changes may appear earlier in each subsequent generation and can include abnormal white matter, conductive deafness, and various kinds of paresis, including ataxia, spastic paraplegia, difficulty controlling the eyes, and bladder and bowel disturbances.

Recessively-inherited mutations in NTE that substantially reduce its catalytic activity cause a rare form of hereditary spastic paraplegia (SPG39), in which distal parts of long spinal axons degenerate leading to limb weakness and paralysis.

Fitzsimmons-Guilbert syndrome is an extremely rare genetic disease characterized by a slowly progressive spastic paraplegia, skeletal anomalies of the hands and feet with brachydactyly type E, cone-shaped epiphyses, abnormal metaphyseal-phalangeal pattern profile, sternal anomaly (pectus carinatum or excavatum), dysarthria, and mild intellectual deficit.

Palmoplantar keratoderma and spastic paraplegia (also known as "Charcot-Marie-Tooth disease with palmoplantar keratoderma and nail dystrophy") is an autosomal dominant or x-linked dominant condition that begins in early childhood with thick focal keratoderma over the soles and, to a lesser extent, the palms.

Hereditary spastic paraplegia Hereditary spastic paraplegia (HSP), a class II assembly disorder, is characterized by progressive, usually severe, lower extremity spasticity due to degeneration of the long axons of the central nervous system (while the cell bodies remain intact).