Spastic Tetraplegia and Axial Hypotonia, Progressive (STAHP)

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OMIM 56 618598 MeSH 43 D011782

MedGen 41 CN262331 EFO 17 EFO_0010567

OMIM : ⁵⁶ 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)

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).

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.

Clinical features from OMIM:

618598

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