Spastic Paraplegia 74, Autosomal Recessive (SPG74)

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Disease Ontology 12 DOID:0110819 OMIM 57 616451 PS303350 MeSH 44 D015419

Orphanet 59 ORPHA468661 MedGen 42 C4225322 CN231443

UniProtKB/Swiss-Prot : ⁷⁴ Spastic paraplegia 74, 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. SPG74 is characterized by a combination of spastic paraplegia, optic atrophy, and peripheral neuropathy with childhood-onset and slow progression into late adulthood.

MalaCards based summary : Spastic Paraplegia 74, Autosomal Recessive, also known as spg74, is related to multiple mitochondrial dysfunctions syndrome 3 and multiple mitochondrial dysfunctions syndrome. An important gene associated with Spastic Paraplegia 74, Autosomal Recessive is IBA57 (Iron-Sulfur Cluster Assembly Factor IBA57). Affiliated tissues include eye, and related phenotypes are progressive spastic paraplegia and peripheral axonal neuropathy

Disease Ontology : ¹² A hereditary spastic paraplegia that has material basis in mutation in the IBA57 gene on chromosome 1q42.

OMIM : ⁵⁷ Spastic paraplegia-74 is an autosomal recessive neurologic disorder characterized by onset of slowly progressive lower limb spasticity, optic atrophy, and peripheral neuropathy in the first decade (summary by Lossos et al., 2015). For a discussion of genetic heterogeneity of autosomal recessive spastic paraplegia, see SPG5A (270800). (616451)

Clinical features from OMIM:

616451

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