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3-Hydroxy-3-Methylglutaryl-CoA Synthase 2 Deficiency
adult-onset ataxia and polyneuropathy
ataxia with oculomotor apraxia type 1
ataxia with oculomotor apraxia type 2
ataxia with oculomotor apraxia type 3
autosomal recessive spinocerebellar ataxia 10
autosomal recessive spinocerebellar ataxia 11
autosomal recessive spinocerebellar ataxia 12
autosomal recessive spinocerebellar ataxia 13
autosomal recessive spinocerebellar ataxia 14
autosomal recessive spinocerebellar ataxia 15
autosomal recessive spinocerebellar ataxia 16
autosomal recessive spinocerebellar ataxia 17
autosomal recessive spinocerebellar ataxia 18
autosomal recessive spinocerebellar ataxia 19
autosomal recessive spinocerebellar ataxia 2
autosomal recessive spinocerebellar ataxia 20
autosomal recessive spinocerebellar ataxia 21
autosomal recessive spinocerebellar ataxia 22
autosomal recessive spinocerebellar ataxia 23
autosomal recessive spinocerebellar ataxia 24
autosomal recessive spinocerebellar ataxia 25
autosomal recessive spinocerebellar ataxia 26
autosomal recessive spinocerebellar ataxia 27
Autosomal Recessive Spinocerebellar Ataxia 28
autosomal recessive spinocerebellar ataxia 3
autosomal recessive spinocerebellar ataxia 4
autosomal recessive spinocerebellar ataxia 6
autosomal recessive spinocerebellar ataxia 7
autosomal recessive spinocerebellar ataxia 8
Autosomal Recessive Spinocerebellar Ataxia with Axonal Neuropathy +
carbamoyl phosphate synthetase I deficiency disease
Carnitine Palmitoyltransferase II Deficiency, Lethal Neonatal
Cayman type cerebellar ataxia
cerebellar ataxia, mental retardation and dysequlibrium syndrome +
Cerebellar Atrophy with Seizures and Variable Developmental Delay
CEREBELLAR ATROPHY, DEVELOPMENTAL DELAY, AND SEIZURES
Cerebellar Atrophy, Visual Impairment, and Psychomotor Retardation
Charlevoix-Saguenay spastic ataxia
Childhood Myocerebrohepatopathy Spectrum
coenzyme Q10 deficiency disease +
combined oxidative phosphorylation deficiency +
Corneal Cerebellar Syndrome
cytochrome-c oxidase deficiency disease +
deafness-dystonia-optic neuronopathy syndrome
Deoxyguanosine Kinase Deficiency
developmental and epileptic encephalopathy 39
Encephalopathy due to Defective Mitochondrial and Peroxisomal Fission +
ethylmalonic encephalopathy
Friedreich ataxia + An autosomal recessive disease, usually of childhood onset, characterized pathologically by degeneration of the spinocerebellar tracts, posterior columns, and to a lesser extent the corticospinal tracts. Clinical manifestations include GAIT ATAXIA, pes cavus, speech impairment, lateral curvature of spine, rhythmic head tremor, kyphoscoliosis, congestive heart failure (secondary to a cardiomyopathy), and lower extremity weakness. Most forms of this condition are associated with a mutation in a gene on chromosome 9, at band q13, which codes for the mitochondrial protein frataxin. (From Adams et al., Principles of Neurology, 6th ed, p1081; N Engl J Med 1996 Oct 17;335(16):1169-75) The severity of Friedreich ataxia associated with expansion of GAA repeats in the first intron of the frataxin gene correlates with the number of trinucleotide repeats. (From Durr et al, N Engl J Med 1996 Oct 17;335(16):1169-75)
Galloway-Mowat syndrome +
Growth Failure, Microcephaly, Mental Retardation, Cataracts, Large Joint Contractures, Osteoporosis, Cortical Dysplasia, and Cerebellar Atrophy
Hypermetabolism due to Defect in Mitochondria
hypomyelinating leukodystrophy 4
hypotonia-cystinuria syndrome
infantile cerebellar-retinal degeneration
Late-Onset Carnitine Palmitoyltransferase II Deficiency
Leber hereditary optic neuropathy +
Leukoencephalopathy with Brainstem and Spinal Cord Involvement and Lactate Elevation
Marinesco-Sjogren syndrome
Medium Chain 3-Ketoacyl-CoA Thiolase Deficiency
Mitochondrial Cardiomyopathy
mitochondrial complex I deficiency +
mitochondrial complex II deficiency +
mitochondrial complex III deficiency +
mitochondrial complex V (ATP synthase) deficiency +
Mitochondrial Cytopathy +
mitochondrial DNA depletion syndrome +
mitochondrial DNA depletion syndrome 7
Mitochondrial Phosphate Carrier Deficiency
mitochondrial pyruvate carrier deficiency
Mousa Al din Al Nassar Syndrome
multiple acyl-CoA dehydrogenase deficiency +
multiple mitochondrial dysfunctions syndrome +
myoclonic cerebellar dyssynergia +
Myopathy with Giant Abnormal Mitochondria
Myopathy, Cataract, Hypogonadism Syndrome
NEURODEVELOPMENTAL DISORDER WITH CEREBELLAR ATROPHY AND WITH OR WITHOUT SEIZURES
Noninsulin-Dependent Diabetes Mellitus with Deafness
olivopontocerebellar atrophy +
Ophthalmoplegic Neuromuscular Disorder with Abnormal Mitochondria
Parkinson's Disease, Mitochondrial
primary coenzyme Q10 deficiency 4
Progressive External Ophthalmoplegia with Hypogonadism
Proximal Myopathy with Focal Depletion of Mitochondria
pyruvate carboxylase deficiency disease +
pyruvate decarboxylase deficiency +
sensory ataxic neuropathy, dysarthria, and ophthalmoparesis
Spinocerebellar Ataxia with Epilepsy
Spinocerebellar Ataxias +
Succinate-Coa Ligase Deficiency +
very long chain acyl-CoA dehydrogenase deficiency
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