Autosomal recessive cerebellar ataxia

MONDO:0015244

Autosomal recessive cerebellar ataxias (ARCA) are a heterogeneous group of rare neurological disorders involving both the central and peripheral nervous system (and in some cases other systems and organs), and characterized by degeneration or abnormal development of the cerebellum and spinal cord and, in most cases, early onset occurring before the age of 20 years.

Also known as: ARCA, arca, cerebellar ataxia, autosomal recessive

90 clinical trials for this condition and its sub-types, 0 tagged with Autosomal recessive cerebellar ataxia itself.

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Where it sits in the disease tree

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↑ Autosomal recessive disease (999) ↑ Hereditary cerebellar ataxia (116)

Sub-types of Autosomal recessive cerebellar ataxia

Autosomal recessive degenerative and progressive cerebellar ataxia 0 trials · 49 incl. sub-types
7 sub-types
- Friedreich ataxia 37 trials Sub-types →
- Marinesco-Sjogren syndrome 10 trials
- FLVCR1-related retinopathy with or without ataxia 0 trials · 1 incl. sub-types Sub-types →
- Mitochondrial DNA depletion syndrome 7 (hepatocerebral type) 1 trial
- Congenital cataracts-facial dysmorphism-neuropathy syndrome 0 trials
- Early-onset cerebellar ataxia with retained tendon reflexes 0 trials
- Early-onset progressive encephalopathy-spastic ataxia-distal spinal muscular atrophy syndrome 0 trials
Autosomal recessive metabolic cerebellar ataxia 0 trials · 10 incl. sub-types
7 sub-types
- Cerebrotendinous xanthomatosis 6 trials
- Abetalipoproteinemia 2 trials
- Recessive mitochondrial ataxia syndrome 2 trials
- Familial isolated deficiency of vitamin E 1 trial
- Autosomal recessive ataxia due to PEX10 deficiency 0 trials
- Autosomal recessive cerebellar ataxia - pyramidal signs - nystagmus - oculomotor apraxia syndrome 0 trials Sub-types →
- Autosomal recessive cerebellar ataxia with late-onset spasticity 0 trials
Autosomal recessive congenital cerebellar ataxia 0 trials · 7 incl. sub-types
7 sub-types
- Cerebellar ataxia, intellectual disability, and dysequilibrium 5 trials Sub-types →
- Joubert syndrome and related disorders 0 trials · 2 incl. sub-types Sub-types →
- CAMOS syndrome 0 trials
- Cayman type cerebellar ataxia 0 trials
- Autosomal recessive spinocerebellar ataxia 17 0 trials
- Autosomal recessive spinocerebellar ataxia 2 0 trials
- Congenital cerebellar ataxia due to RNU12 mutation 0 trials
Autosomal recessive syndromic cerebellar ataxia 0 trials · 2 incl. sub-types
7 sub-types
- Cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome 2 trials
- Gemignani syndrome 0 trials
- Acute infantile liver failure-cerebellar ataxia-peripheral sensory motor neuropathy syndrome 0 trials
- Ataxia - oculomotor apraxia type 4 0 trials
- Autosomal recessive cerebellar ataxia-saccadic intrusion syndrome 0 trials
- Autosomal recessive spinocerebellar ataxia 11 0 trials
- Peroxisome biogenesis disorder 4B 0 trials
Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 0 trials · 2 incl. sub-types
3 sub-types
Charlevoix-Saguenay spastic ataxia 1 trial
Autosomal recessive spinocerebellar ataxia 7 1 trial
Lichtenstein-Knorr syndrome 0 trials
RIDDLE syndrome 0 trials
Ataxia with oculomotor apraxia type 3 0 trials
Autosomal recessive ataxia due to ubiquinone deficiency 0 trials
Autosomal recessive ataxia, Beauce type 0 trials
Autosomal recessive cerebellar ataxia - epilepsy - intellectual disability syndrome 0 trials
3 sub-types
- Autosomal recessive spinocerebellar ataxia 12 0 trials
- Autosomal recessive spinocerebellar ataxia 15 0 trials
- Spinocerebellar ataxia, autosomal recessive 23 0 trials
Autosomal recessive spinocerebellar ataxia 10 0 trials
Autosomal recessive spinocerebellar ataxia 14 0 trials
Autosomal recessive spinocerebellar ataxia 16 0 trials
Autosomal recessive spinocerebellar ataxia 20 0 trials
Infantile-onset autosomal recessive nonprogressive cerebellar ataxia 0 trials
Spinocerebellar ataxia, autosomal recessive 22 0 trials
Spinocerebellar ataxia, autosomal recessive 24 0 trials
Spinocerebellar ataxia, autosomal recessive 25 0 trials
Spinocerebellar ataxia, autosomal recessive 26 0 trials
Spinocerebellar ataxia, autosomal recessive 27 0 trials
Spinocerebellar ataxia, autosomal recessive 28 0 trials
Spinocerebellar ataxia, autosomal recessive 29 0 trials
Spinocerebellar ataxia, autosomal recessive 30 0 trials
Spinocerebellar ataxia, autosomal recessive 31 0 trials
Spinocerebellar ataxia, autosomal recessive 32 0 trials
Spinocerebellar ataxia, autosomal recessive 33 0 trials

Most studied deeper sub-types

COACH syndrome (1) Friedreich ataxia 1 (1) Joubert syndrome with oculorenal defect (1) Posterior column ataxia-retinitis pigmentosa syndrome (1) Autosomal recessive spinocerebellar ataxia 13 (0) Autosomal recessive spinocerebellar ataxia 18 (0) Cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 1 (0) Cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 2 (0) Cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 3 (0) Cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 4 (0) COACH syndrome 1 (0) COACH syndrome 2 (0) COACH syndrome 3 (0) Friedreich ataxia 2 (0) Friedreich ataxia with retained reflexes (0) Joubert syndrome 14 (0) Joubert syndrome 15 (0) Joubert syndrome 16 (0) Joubert syndrome 2 (0) Joubert syndrome 20 (0)

Including sub-types (90) Tagged with Autosomal recessive cerebellar ataxia (0)

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