STAHP
MCID: SPS236
MIFTS: 19
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Spastic Tetraplegia and Axial Hypotonia, Progressive (STAHP)
Categories:
Genetic diseases, Neuronal diseases
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MalaCards integrated aliases for Spastic Tetraplegia and Axial Hypotonia, Progressive:Characteristics:OMIM®:57 (Updated 05-Mar-2021)
Inheritance:
autosomal recessive
Miscellaneous:
progressive disorder onset in the first year of life two unrelated patients have been reported (last curated september 2019) HPO:31Classifications: |
OMIM® :
57
Progressive spastic tetraplegia and axial hypotonia (STAHP) is an autosomal recessive neurologic disorder characterized by onset of severe and progressive motor dysfunction in the first year of life. Affected individuals have severe axial hypotonia combined with spastic tetraplegia, hyperekplexia, hypertonia, and myokymia, reflecting upper motor neuron involvement. Cognitive development may be affected, but only 2 unrelated patients have been reported (Andersen et al., 2019; Park et al., 2019). (618598) (Updated 05-Mar-2021)
MalaCards based summary : Spastic Tetraplegia and Axial Hypotonia, Progressive, is also known as sod1 deficiency, autosomal recessive. An important gene associated with Spastic Tetraplegia and Axial Hypotonia, Progressive is SOD1 (Superoxide Dismutase 1). Related phenotypes are ataxia and absent speech UniProtKB/Swiss-Prot : 73 Spastic tetraplegia and axial hypotonia, progressive: An autosomal recessive, neurologic disorder characterized by loss of motor abilities in the first year of life, after which severe, progressive spastic tetraparesis develops. Affected individuals have severe axial hypotonia, hyperekplexia, hypertonia, and myokymia, reflecting upper motor neuron involvement. Cognitive development may be affected. |
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Human phenotypes related to Spastic Tetraplegia and Axial Hypotonia, Progressive:31 (show all 14)
Symptoms via clinical synopsis from OMIM®:57 (Updated 05-Mar-2021)Clinical features from OMIM®:618598 (Updated 05-Mar-2021) |
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Articles related to Spastic Tetraplegia and Axial Hypotonia, Progressive:
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ClinVar genetic disease variations for Spastic Tetraplegia and Axial Hypotonia, Progressive:6
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