Spastic Ataxia 5, Autosomal Recessive (SPAX5)

Alias:

Spax5

Afg3l2-Related Spastic Ataxia-Myoclonic Epilepsy-Neuropathy Syndrome

Early-Onset Spastic Ataxia-Myoclonic Epilepsy-Neuropathy Syndrome

Ataxia, Spastic, Type 5, Autosomal Recessive

Autosomal Recessive Spastic Ataxia Type 5

Spastic Ataxia 5

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Basic Information

Medical Symptom

Gene & Mutation

Related Drugs

Disease Model

References Literature

Spastic Ataxia 5, Autosomal Recessive, also known as spax5, is related to spastic ataxia 5 and contractures, pterygia, and spondylocarpotarsal fusion syndrome 1a, and has symptoms including ataxia, muscle spasticity and myoclonus. An important gene associated with Spastic Ataxia 5, Autosomal Recessive is AFG3L2 (AFG3 Like Matrix AAA Peptidase Subunit 2). Affiliated tissues include skeletal muscle and cerebellum, and related phenotypes are spasticity and eeg abnormality

Related ID：

MALACARDS：SPS212

OMIM：614487

MESH：D002524