SPG82
MCID: SPS239
MIFTS: 21
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Spastic Paraplegia 82, Autosomal Recessive (SPG82)
Categories:
Bone diseases, Ear diseases, Eye diseases, Gastrointestinal diseases, Genetic diseases, Mental diseases, Metabolic diseases, Nephrological diseases, Neuronal diseases, Rare diseases, Respiratory diseases, Skin diseases
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MalaCards integrated aliases for Spastic Paraplegia 82, Autosomal Recessive:Characteristics:HPO:31Classifications:
MalaCards categories:
Global: Genetic diseases Rare diseases Metabolic diseases Anatomical: Neuronal diseases Eye diseases Gastrointestinal diseases Skin diseases Respiratory diseases Bone diseases Nephrological diseases Ear diseases Mental diseases |
OMIM :
56
Autosomal recessive spastic paraplegia-82 (SPG82) is a progressive neurologic disorder characterized by global developmental delay apparent from infancy, significant motor impairment, and progressive spasticity mainly affecting the lower limbs. Some patients never achieve walking, whereas others lose the ability to walk or walk with an unsteady gait. Additional features include variably impaired intellectual development with language difficulties, ocular anomalies, such as nystagmus and visual impairment, and seizures. Brain imaging shows progressive cerebral and cerebellar atrophy, as well as white matter hyperintensities. Based on the additional abnormalities, the disorder can be classified as a type of complicated SPG (summary by Vaz et al., 2019).
For a discussion of genetic heterogeneity of autosomal recessive spastic paraplegia, see SPG5A (270800). (618770)
MalaCards based summary : Spastic Paraplegia 82, Autosomal Recessive, is also known as spg82. An important gene associated with Spastic Paraplegia 82, Autosomal Recessive is PCYT2 (Phosphate Cytidylyltransferase 2, Ethanolamine). Affiliated tissues include brain, and related phenotypes are intellectual disability and delayed speech and language development UniProtKB/Swiss-Prot : 73 Spastic paraplegia 82, autosomal recessive: A form of spastic paraplegia, a neurodegenerative disorder characterized by a slow, gradual, progressive weakness and spasticity of the lower limbs. Rate of progression and the severity of symptoms are quite variable. Initial symptoms may include difficulty with balance, weakness and stiffness in the legs, muscle spasms, and dragging the toes when walking. In some forms of the disorder, bladder symptoms (such as incontinence) may appear, or the weakness and stiffness may spread to other parts of the body. SPG82 is a complicated form characterized by global developmental delay with regression, spastic para- or tetraparesis, epilepsy and progressive cerebral and cerebellar atrophy. |
Human phenotypes related to Spastic Paraplegia 82, Autosomal Recessive:31 (show all 14)
Symptoms via clinical synopsis from OMIM:56Clinical features from OMIM:618770 |
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MalaCards organs/tissues related to Spastic Paraplegia 82, Autosomal Recessive:40
Brain
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ClinVar genetic disease variations for Spastic Paraplegia 82, Autosomal Recessive:6
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