Spastic Paraplegia 55, Autosomal Recessive (SPG55)

Spastic Paraplegia 55, Autosomal Recessive(来自ICD-11)

别称:

Hereditary Spastic Paraplegia 55

Spg55

Autosomal Recessive Spastic Paraplegia Type 55

Paraplegia, Spastic, Autosomal Recessive, Type 55

Autosomal Recessive Spastic Paraplegia 55

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Basic Information

Medical Symptom

Gene & Mutation

Related Drugs

Disease Model

References Literature

Spastic Paraplegia 55, Autosomal Recessive, also known as hereditary spastic paraplegia 55, is related to neuropathy and 3-methylglutaconic aciduria, type iii, and has symptoms including clonus An important gene associated with Spastic Paraplegia 55, Autosomal Recessive is MTRFR (Mitochondrial Translation Release Factor In Rescue), and among its related pathways/superpathways is Intracellular trafficking proteins involved in CMT neuropathy. Affiliated tissues include eye and skeletal muscle, and related phenotypes are spasticity and hyperreflexia

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