spastic ataxia 5
Findings
No curated finding names spastic ataxia 5 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Early-onset spastic ataxia-myoclonic epilepsy-neuropathy syndrome is a rare hereditary spastic ataxia disorder characterized by childhood onset of slowly progressive lower limb spastic paraparesis and cerebellar ataxia (with dysarthria, swallowing difficulties, motor degeneration), associated with sensorimotor neuropathy (including muscle weakness and distal amyotrophy in lower extremities) and progressive myoclonic epilepsy. Ocular signs (ptosis, oculomotor apraxia), dysmetria, dysdiadochokinesia, dystonic movements and myoclonus may also be associated.
Definition from the Mondo Disease Ontology (MONDO:0013776), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Infantile onset · Progressive · Childhood onset
HPO, annotations 2026-09-02
Features
27 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- AtaxiaHPOHP:0001251
- 2 of 2 reported patients
- Frequent (30% to 79% of cases)
- Bilateral tonic-clonic seizureHPOHP:0002069
- 2 of 2 reported patients
- Frequent (30% to 79% of cases)
- Cerebellar atrophyHPOHP:0001272
- 1 of 1 reported patient
- Frequent (30% to 79% of cases)
- Distal amyotrophyHPOHP:0003693
- 2 of 2 reported patients
- Frequent (30% to 79% of cases)
- DysarthriaHPOHP:0001260
- 2 of 2 reported patients
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- AFG3L2HGNC:315
- Definitive · G2P · Autosomal recessive · 2021
- Strong · Genomics England PanelApp · Autosomal recessive · 2021
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2021
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Supportive · Orphanet · Autosomal recessive · 2021
Where it sits
Other names
7 names
Resolves to: spastic ataxia 5
- Also called
- AFG3L2 autosomal recessive spastic ataxiaAFG3L2-related spastic ataxia-myoclonic epilepsy-neuropathy syndromeAFG3L2-related spastic ataxia-neuropathy syndromeautosomal recessive spastic ataxia caused by mutation in AFG3L2autosomal recessive spastic ataxia type 5spastic ataxia type 5SPAX5