| Inbound Relationships |
Type |
Active |
Source |
Characteristic |
Refinability |
Group |
| Dentatorubropallidoluysian degeneration |
Is a |
True |
Hereditary ataxia (disorder) |
Inferred relationship |
Some |
|
| Spinocerebellar ataxia |
Is a |
True |
Hereditary ataxia (disorder) |
Inferred relationship |
Some |
|
| Episodic ataxia (disorder) |
Is a |
True |
Hereditary ataxia (disorder) |
Inferred relationship |
Some |
|
| Fragile X associated tremor ataxia syndrome (disorder) |
Is a |
True |
Hereditary ataxia (disorder) |
Inferred relationship |
Some |
|
| Epilepsy, ataxia, sensorineural deafness, and tubulopathy syndrome |
Is a |
False |
Hereditary ataxia (disorder) |
Inferred relationship |
Some |
|
| Autosomal recessive spastic ataxia of Charlevoix-Saguenay (disorder) |
Is a |
True |
Hereditary ataxia (disorder) |
Inferred relationship |
Some |
|
| A rare autosomal recessive cerebellar ataxia, characterized by progressive cerebellar ataxia associated with oculomotor apraxia, severe neuropathy, and hypoalbuminemia. |
Is a |
True |
Hereditary ataxia (disorder) |
Inferred relationship |
Some |
|
| A rare syndromic cerebellar ataxia characterized by hypodontia and sparse hair in combination with cerebellar ataxia and normal intelligence. Imaging demonstrates a cerebellar atrophy. |
Is a |
True |
Hereditary ataxia (disorder) |
Inferred relationship |
Some |
|
| A form of hereditary spastic ataxia characterised by an onset usually in adulthood (but ranging from 10-72 years) of progressive bilateral lower limb weakness and spasticity and sometimes predominant cerebellar ataxia. In addition to frequent sphincter dysfunction and decreased vibratory sense at the ankles, manifestations may include optical neuropathy, nystagmus, blepharoptosis, ophthalmoplegia, decreased hearing, scoliosis, pes cavus, motor and sensory neuropathy, muscle atrophy, parkinsonism, and dystonia. |
Is a |
True |
Hereditary ataxia (disorder) |
Inferred relationship |
Some |
|
| A very rare autosomal recessive, slowly progressive neurodegenerative disorder characterized by the triad of cerebellar ataxia (that generally manifests at adolescence or early adulthood), chorioretinal dystrophy, which may have a later onset (up to the fifth-sixth decade) leading to variable degrees of visual impairment, and hypogonadotropic hypogonadism (delayed puberty and lack of secondary sex characteristics). Ataxia-hypogonadism-choroidal dystrophy syndrome belongs to a clinical continuum of neurodegenerative disorders along with the clinically overlapping cerebellar ataxia-hypogonadism syndrome. |
Is a |
True |
Hereditary ataxia (disorder) |
Inferred relationship |
Some |
|
| A rare mitochondrial disease characterized by adult onset of the triad of sensory ataxic neuropathy, dysarthria, and ophthalmoparesis. Additional signs and symptoms are highly variable and include myopathy, seizures, and hearing loss, among others. Brain imaging may show cerebellar white matter abnormalities and/or bilateral thalamic lesions. |
Is a |
True |
Hereditary ataxia (disorder) |
Inferred relationship |
Some |
|
| A rare, autosomal recessive, congenital, cerebellar ataxia disorder characterized by hypotonia from birth, marked psychomotor delay and prominent cerebellar dysfunction (manifesting with nystagmus, intention tremor, dysarthria, ataxic gait and truncal ataxia), described in an isolated population of the Grand Cayman Island. Cerebellar hypoplasia, observed on CT scan, may be associated. |
Is a |
True |
Hereditary ataxia (disorder) |
Inferred relationship |
Some |
|
| A rare, X-linked syndromic intellectual disability disorder characterized by non-progressive ataxia, apraxia, variable intellectual disability and/or visuospatial, visuographic and visuoconstructive dysfunctions in male patients. Seizures, congenital clubfoot and macroorchidism have also been associated. Partial clinical expression was noted in obligate female carriers. There have been no further descriptions in the literature since 1992. |
Is a |
True |
Hereditary ataxia (disorder) |
Inferred relationship |
Some |
|
| A rare genetic disease characterized by mild intellectual deficit, congenital cataract, progressive sensorineural hearing impairment, ataxia, peripheral neuropathy, and short stature. There have been no further descriptions in the literature since 1991. |
Is a |
True |
Hereditary ataxia (disorder) |
Inferred relationship |
Some |
|
| A rare genetic syndromic intellectual disability characterized by global developmental delay, intellectual disability, infantile or childhood onset of progressive ataxia, and bilateral sensorineural hearing impairment. Variable features include signs of upper and lower motor neuron disease, peripheral neuropathy, myopathic facies, lower limb muscle wasting, and heel contractures. There have been no further descriptions in the literature since 1993. |
Is a |
True |
Hereditary ataxia (disorder) |
Inferred relationship |
Some |
|
| A rare autosomal dominant neurological disorder characterized by early onset cerebellar ataxia, associated with areflexia, progressive optic atrophy, sensorineural deafness, a pes cavus deformity, and abnormal eye movements. |
Is a |
True |
Hereditary ataxia (disorder) |
Inferred relationship |
Some |
|
| A rare genetic disease characterized by the association of epilepsy, ataxia, sensorineural hearing impairment, and renal tubulopathy. Patients present in infancy with generalized seizures, cerebellar dysfunction (including gait ataxia, intention tremor, and dysdiadochokinesis), and variable developmental delay and sensorineural hearing loss. Laboratory studies show persistent hypokalemic metabolic acidosis with hypomagnesemia. Additional reported neurologic features include brisk deep tendon reflexes, ankle clonus, extensor plantar responses, or nystagmus. |
Is a |
True |
Hereditary ataxia (disorder) |
Inferred relationship |
Some |
|
| A rare polymorphic disorder, subtype of autosomal dominant cerebellar ataxia type 1 (ADCA type 1), characterized by ataxia, sensorineural deafness and narcolepsy with cataplexy and dementia. |
Is a |
True |
Hereditary ataxia (disorder) |
Inferred relationship |
Some |
|
| A rare subtype of autosomal dominant cerebellar ataxia type 1 (ADCA type 1) characterized by the onset in infancy of cerebellar ataxia, neonatal hypotonia (in some), mild developmental delay and, in later life, intellectual disability. Less common features include dysarthria, dysmetria and dysmorphic facial features (long face, bulbous nose long philtrum, thick lower lip and pointed chin). |
Is a |
True |
Hereditary ataxia (disorder) |
Inferred relationship |
Some |
|
| Posterior column ataxia - retinitis pigmentosa is characterized by the association of progressive sensory ataxia and retinitis pigmentosa. |
Is a |
True |
Hereditary ataxia (disorder) |
Inferred relationship |
Some |
|
| A rare disorder characterized by slowly progressive spasticity, extrapyramidal movement disorders (dystonia, choreoathetosis and rigidity), cerebellar ataxia, moderate to severe cognitive deficit, and anarthria/dysarthria. |
Is a |
True |
Hereditary ataxia (disorder) |
Inferred relationship |
Some |
|
| Ataxia co-occurrent and due to cerebrotendinous xanthomatosis |
Is a |
False |
Hereditary ataxia (disorder) |
Inferred relationship |
Some |
|
| Ataxia co-occurrent and due to phytanic acid storage disease (disorder) |
Is a |
True |
Hereditary ataxia (disorder) |
Inferred relationship |
Some |
|
| Ataxia co-occurrent and due to abetalipoproteinemia (disorder) |
Is a |
True |
Hereditary ataxia (disorder) |
Inferred relationship |
Some |
|
| This syndrome is characterized by childhood-onset progressive ataxia and cerebellar atrophy. |
Is a |
True |
Hereditary ataxia (disorder) |
Inferred relationship |
Some |
|
| A rare autosomal recessive cerebellar ataxia (ARCA), characterized by progressive cerebellar ataxia associated with frequent oculomotor apraxia, severe neuropathy and an elevated serum alpha-fetoprotein (AFP) level. |
Is a |
True |
Hereditary ataxia (disorder) |
Inferred relationship |
Some |
|
| A rare disorder characterized by a slowly progressive pure cerebellar ataxia associated with dysarthria. It has been described in 53 individuals from 26 families of Canadian origin. The mode of transmission is autosomal recessive. Positional cloning has led to the identification of several gene mutations. |
Is a |
True |
Hereditary ataxia (disorder) |
Inferred relationship |
Some |
|
| A disorder that is characterized by the association of a non-progressive congenital ataxia, severe intellectual deficit, optic atrophy and structural anomalies of the skin vessels. It has been described in five children from a large consanguineous Lebanese family. Short stature and microcephaly were also reported. Transmission is autosomal recessive. |
Is a |
True |
Hereditary ataxia (disorder) |
Inferred relationship |
Some |
|
| This syndrome is characterized by the association of myoclonus, cerebellar ataxia and sensorineural hearing loss. |
Is a |
True |
Hereditary ataxia (disorder) |
Inferred relationship |
Some |
|
| A rare, genetic, slowly progressive neurodegenerative disease characterized by delayed psychomotor development beginning in infancy, mild to profound intellectual disability, gait and stance ataxia, pyramidal signs (hyperreflexia, extensor plantar responses), dysarthria, and ocular abnormalities (e.g. nystagmus, oculomotor apraxia, abduction deficits, esotropia, ptosis). Brain imaging reveals progressive, generalized cerebellar atrophy, mild ventriculomegaly and, in some, retrocerebellar cysts. |
Is a |
True |
Hereditary ataxia (disorder) |
Inferred relationship |
Some |
|
| A rare neuro-ophthalmological disease characterized by nonprogressive cerebellar ataxia, delayed motor and language development and intellectual disability, in addition to ophthalmological abnormalities (e.g. oculomotor apraxia, strabismus, amblyopia, retinal dystrophy and myopia). Cerebellar cysts, cerebellar dysplasia and cerebellar vermis hypoplasia, seen on magnetic resonance imaging, are also characteristic of the disease. |
Is a |
True |
Hereditary ataxia (disorder) |
Inferred relationship |
Some |
|
| A rare, genetic neurodegenerative disease characterized by childhood or adolescent-onset of cerebellar ataxia with dysarthria which slowly progresses and associates pyramidal signs, including lower limb spasticity, brisk reflexes, and Babinski and Hoffman signs. Patients typically present cerebellar ataxia with development of increasing asymmetric spasticity in upper and lower limbs, and variable axonal sensory or sensorimotor neuropathy. Additional heterogeneous features, including pes cavus, scoliosis, and abnormalities of the brain (e.g. cerebral atrophy), may also be associated. |
Is a |
True |
Hereditary ataxia (disorder) |
Inferred relationship |
Some |
|
| Spectrin-associated autosomal recessive cerebellar ataxia is a rare, genetic neurological disease, due to SPTBN2 mutations, characterized by global development delay in infancy, followed by childhood-onset gait ataxia with limb dysmetria and dysdiadochokinesia, mild to severe intellectual disability, development of cerebellar atrophy, and abnormal eye movements (including a convergent squint, hypometric saccades, jerky pursuit movements and incomplete range of movement). |
Is a |
True |
Hereditary ataxia (disorder) |
Inferred relationship |
Some |
|
| Spastic ataxia with congenital miosis is a rare hereditary ataxia characterized by an apparently non-progressive or slowly progressive symmetrical ataxia of gait, pyramidal signs in the limbs, spasticity and hyperreflexia (especially in the lower limbs) together with dysarthria and impaired pupillary reaction to light, presenting as a fixed miosis (with pupils that seldom exceed 2 mm in diameter and dilate poorly with mydriatics). Nystagmus may also be present. |
Is a |
True |
Hereditary ataxia (disorder) |
Inferred relationship |
Some |
|
| Syndrome with characteristics of ataxia, delayed dentition, hypomyelination and cerebral atrophy. So far eight cases have been described. There is evidence that the disease is caused by homozygous or compound heterozygous mutation in the POLR3A gene on chromosome 10q22. |
Is a |
True |
Hereditary ataxia (disorder) |
Inferred relationship |
Some |
|
| A rare hereditary ataxia characterized by a progressive cerebellar ataxia associated with disruption of visual fixation by saccadic intrusions (overshooting horizontal saccades with macrosaccadic oscillations and increased velocity of larger saccades). It presents with progressive gait, trunk and limb ataxia with pyramidal tract signs (increased tendon reflexes and Babinski sign), myoclonic jerks, fasciculations, cerebellar dysarthria, sensorimotor axonal neuropathy with impaired joint position, vibration, temperature, pain sensations, pes cavus, and saccadic intrusions with characteristic overshooting horizontal saccades, macrosaccadic oscillations, and increased velocity of larger saccades, without other eye movement disturbances. |
Is a |
True |
Hereditary ataxia (disorder) |
Inferred relationship |
Some |
|
| X-linked non progressive cerebellar ataxia is a rare hereditary ataxia characterized by delayed early motor development, severe neonatal hypotonia, non-progressive ataxia and slow eye movements, presenting normal cognitive abilities and absence of pyramidal signs. Frequently patients also manifest intention tremor, mild dysphagia, and dysarthria. Brain MRI reveals global cerebellar atrophy with absence of other malformations or degenerations of the central and peripheral nervous systems. |
Is a |
True |
Hereditary ataxia (disorder) |
Inferred relationship |
Some |
|
| A rare genetic disease characterized by cerebellar ataxia, cytopenias and predisposition to bone marrow failure and myeloid leukemia. Neurologic features variably include slowly progressive cerebellar ataxia or balance impairment with cerebellar atrophy and periventricular white matter T2 hyperintensities in brain MRI, horizontal and vertical nystagmus, dysmetria, dysarthria, pyramidal tract signs and reduced nerve conduction velocity. Hematological abnormalities are variable and may be intermittent and include cytopenias of all cell lineages, immunodeficiency, myelodysplasia and acute myeloid leukemia. |
Is a |
True |
Hereditary ataxia (disorder) |
Inferred relationship |
Some |
|
| A rare neurologic disease characterized by a specific pattern of white matter abnormalities on brain imaging (magnetic resonance imaging), as well as mild ataxia, headaches, mild visual impairment, learning difficulties and cases of male infertility. |
Is a |
True |
Hereditary ataxia (disorder) |
Inferred relationship |
Some |
|
| A rare autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome characterized by early-childhood onset of cerebellar ataxia associated with generalized tonic-clonic epilepsy and psychomotor development delay, dysarthria, gaze-evoked nystagmus and learning disability. Other features in some patients include upper motor neuron signs with leg spasticity and extensor plantar responses, and mild cerebellar atrophy on brain MRI. |
Is a |
True |
Hereditary ataxia (disorder) |
Inferred relationship |
Some |
|
| A genetic neurodegenerative disease with normal early development followed by childhood onset optic atrophy with progressive vision loss and eventually blindness, followed by progressive neurological decline that typically includes cerebellar ataxia, nystagmus, dorsal column dysfunction (decreased vibration and position sense), spastic paraplegia and finally tetraparesis. There is evidence this disease is caused by homozygous or compound heterozygous mutation in the UCHL1 gene on chromosome 4p13. |
Is a |
True |
Hereditary ataxia (disorder) |
Inferred relationship |
Some |
|
| A rare hereditary ataxia characterised by early onset symptomatic generalised epilepsy, progressive cerebellar ataxia resulting in significant difficulties to walk or wheelchair dependency, and intellectual disability. There is evidence the disease is caused by homozygous mutation in the TDP2 gene on chromosome 6p22. |
Is a |
True |
Hereditary ataxia (disorder) |
Inferred relationship |
Some |
|
| A rare neurometabolic disease characterised by a childhood onset of progressive spastic ataxia associated with gait disturbances, hyperreflexia, extensor plantar responses and non-ketotic hyperglycinaemia typically revealed by biochemical analysis. Additional signs of upper extremity spasticity, dysarthria, learning difficulties, poor concentration, nystagmus, optic atrophy and reduced visual acuity may also be associated. There is evidence the disease is caused by homozygous or compound heterozygous mutation in the GLRX5 gene on chromosome 14q32. |
Is a |
True |
Hereditary ataxia (disorder) |
Inferred relationship |
Some |
|
| A rare genetic multiple congenital anomalies/dysmorphic syndrome with characteristics of cerebellar-like ataxia, photosensitivity (mainly of the face and trunk), short stature and intellectual disability. Additional features include clinodactyly, single palmar transverse crease, high-arched palate, pseudohypertrophy of the calves and aortic valve lesions. There have been no further descriptions in the literature since 1983. |
Is a |
False |
Hereditary ataxia (disorder) |
Inferred relationship |
Some |
|
| A rare neurodegenerative disease characterized by slowly progressive ataxia, amyotrophy of the hands and distal arms, spastic paraplegia, progressive sensorineural hearing loss, hypogonadism and short stature. Additional features include generalized cerebellar atrophy and peripheral nervous system anomalies. Small cervical spinal cord, intellectual/language disability and localized vitiligo have also been reported. There have been no further descriptions in the literature since 1989. |
Is a |
True |
Hereditary ataxia (disorder) |
Inferred relationship |
Some |
|
| A rare genetic central nervous system malformation syndrome with characteristics of early-onset progressive severe cerebellar ataxia associated with progressive moderate to severe intellectual disability, global developmental delay, progressively coarsening facial features, relative macrocephaly and absence of seizures. Sensorineural hearing loss may be associated. Neuroimaging reveals cerebellar atrophy/hypoplasia. There is evidence the disease is caused by homozygous mutation in the SNX14 gene on chromosome 6q14. |
Is a |
True |
Hereditary ataxia (disorder) |
Inferred relationship |
Some |
|
| A rare mitochondrial DNA maintenance syndrome with characteristics of early-onset cerebellar ataxia and a variable combination of epilepsy, headache, dysarthria, ophthalmoplegia, peripheral neuropathy, intellectual disability, psychiatric symptoms and movement disorders. |
Is a |
True |
Hereditary ataxia (disorder) |
Inferred relationship |
Some |
|
| A rare hereditary ataxia with characteristics of simultaneous onset and development of cerebellar ataxia and chorioretinal degeneration (including macular degeneration, advancing choroidal sclerosis, punctata albescens, and retinitis pigmentosa). There have been no further descriptions in the literature since 1963. |
Is a |
True |
Hereditary ataxia (disorder) |
Inferred relationship |
Some |
|
| A rare genetic autosomal recessive spastic ataxia disease with characteristics of the onset in early childhood of spastic paraparesis, cerebellar ataxia, dysarthria and optic atrophy. Caused by homozygous mutation in the MTPAP gene on chromosome 10p11. |
Is a |
True |
Hereditary ataxia (disorder) |
Inferred relationship |
Some |
|
| A rare genetic autosomal recessive spastic ataxia disease with characteristics of cerebellar ataxia, spasticity, cerebellar (and in some cases cerebral) atrophy, dystonia and leukoencephalopathy. Caused by homozygous or compound heterozygous complex genomic rearrangements involving the MARS2 gene on chromosome 2q33. |
Is a |
True |
Hereditary ataxia (disorder) |
Inferred relationship |
Some |
|
| A rare genetic autosomal dominant spastic ataxia disorder with characteristics of lower-limb spasticity and ataxia in the form of head jerks, ocular movement abnormalities, dysarthria, dysphagia and gait disturbances. Caused by heterozygous mutation in the VAMP1 gene on chromosome 12p13. |
Is a |
True |
Hereditary ataxia (disorder) |
Inferred relationship |
Some |
|
| A rare genetic autosomal recessive cerebellar ataxia disease with characteristics of nonprogressive cerebellar ataxia, with onset in infancy, manifesting with delayed motor and speech development, gait ataxia, dysmetria, hypotonia, increased deep tendon reflexes and dysarthria. Additional variable manifestations include moderate nystagmus on lateral gaze, mild spasticity, intention tremor, short stature and pes planus. Brain imaging reveals cerebellar vermis atrophy. |
Is a |
True |
Hereditary ataxia (disorder) |
Inferred relationship |
Some |
|
| A rare genetic syndromic intellectual disability disease with characteristics of global developmental delay, microcephaly, mild to moderate intellectual disability, truncal ataxia, trunk and limb, or generalized, choreiform movements, and elevated serum creatine kinase levels. Variably associated features include mild cerebral atrophy, muscular weakness or hypotonia in early childhood, and/or seizures. Ocular abnormalities (for example exophoria, anisometropia, amblyopia) have been reported. |
Is a |
True |
Hereditary ataxia (disorder) |
Inferred relationship |
Some |
|
| Syndrome with characteristics of intellectual deficit, early-onset hypotonia, ataxia, delayed motor development, hearing impairment and loss of vision due to optic atrophy. Other manifestations included floppiness, susceptibility to infections and later flaccid tetraplegia and areflexia. It is caused by missense mutations in the phosphoribosyl pyrophosphate synthetase 1 gene (PRPS1) localized to Xq22.1-q24, leading to impaired purine biosynthesis. Transmitted as an X-linked recessive trait. The disease has a fatal course during childhood (the majority of patients die before the age of 5 years) due to the high susceptibility of the patients to infections, especially of the upper respiratory tract. |
Is a |
True |
Hereditary ataxia (disorder) |
Inferred relationship |
Some |
|
| Saldino-Mainzer dysplasia |
Is a |
True |
Hereditary ataxia (disorder) |
Inferred relationship |
Some |
|
| Marinesco-Sjögren syndrome (disorder) |
Is a |
True |
Hereditary ataxia (disorder) |
Inferred relationship |
Some |
|
| A rare X-linked cerebellar ataxia with characteristics of a combination of upper and lower motor neuron signs, with an age of onset in the first or second decade, slow progression, and normal intelligence. Typical features of cerebellar dysfunction include gait and limb ataxia, intention tremor, dysmetria, dysdiadochokinesia, dysarthria, nystagmus, and hyperreflexia. Further phenotypic features are pes cavus, scoliosis, muscle atrophy, and peripheral sensory and motor nerve abnormalities. |
Is a |
True |
Hereditary ataxia (disorder) |
Inferred relationship |
Some |
|
| Neuropathy in association with hereditary ataxia |
Is a |
True |
Hereditary ataxia (disorder) |
Inferred relationship |
Some |
|
| Onset of disease between 2 and 5 years of age with characteristics of cerebello-spastic syndrome exacerbated by episodes of fever or head trauma leading to death after 5 to 10 years of disease evolution, diffuse involvement of the white matter on cerebral MRI with a CSF-like signal intensity (cavitation), a recessive autosomal mode of inheritance, neuropathologic findings consistent with a cavitating orthochromatic leukodystrophy with increased number of oligodendrocytes. This disease is linked to mutations in the five EIF2B genes encoding the five subunits of the eukaryotic initiation factor 2B (eIF2B), involved in the protein synthesis and its regulation under cellular stress. |
Is a |
True |
Hereditary ataxia (disorder) |
Inferred relationship |
Some |
|
| Progressive cerebellar ataxia with hypogonadism |
Is a |
True |
Hereditary ataxia (disorder) |
Inferred relationship |
Some |
|
| Autosomal dominant cerebellar ataxia type 2 |
Is a |
True |
Hereditary ataxia (disorder) |
Inferred relationship |
Some |
|
| Christianson syndrome |
Is a |
True |
Hereditary ataxia (disorder) |
Inferred relationship |
Some |
|
| An X-linked syndromic intellectual disability characterized by congenital ataxia and generalized hypotonia, global developmental delay with intellectual disability, myoclonic encephalopathy, progressive neurological deterioration, macular degeneration, and recurrent bronchopulmonary infections. |
Is a |
True |
Hereditary ataxia (disorder) |
Inferred relationship |
Some |
|
| A rare hereditary ataxia characterized by delayed motor milestones in early infancy, hypotonia, ataxic gait, intention tremor, nystagmus, dysarthric speech, and variable learning difficulties. Neuroimaging shows a mixed picture of cerebellar hypoplasia and degeneration, with an almost absent inferior lobule and thinning of the folia of the vermis. In addition, cisterna magna and fourth ventricle are enlarged with relative sparing of the brain stem volume. |
Is a |
True |
Hereditary ataxia (disorder) |
Inferred relationship |
Some |
|
| A rare hereditary ataxia with characteristics of neurogenic muscular atrophy associated with signs of cerebellar ataxia, degeneration of the retina and diabetes mellitus. Onset of the disease is in adolescence and the course is slowly progressive. |
Is a |
True |
Hereditary ataxia (disorder) |
Inferred relationship |
Some |
|
| A rare genetic neurological disorder characterized by infantile or childhood onset of recurrent acute encephalopathic episodes with cerebellar and extrapyramidal involvement following febrile illnesses. During the episodes, patients typically show sudden onset of truncal ataxia, occasionally accompanied by lethargy and impairment of speech, as well as choreic and athetoid movements, seizures, loss of deep tendon reflexes, and presence of pathological reflexes. Episodes last from day to weeks and may leave residual symptoms such as speech impairment and poor coordination. There have been no further descriptions in the literature since 1983. |
Is a |
True |
Hereditary ataxia (disorder) |
Inferred relationship |
Some |
|
| Disease with characteristics of progressive ataxia beginning during infancy, a pyramidal syndrome and dental agenesis. The syndrome has been described in four children born to consanguineous parents. The mode of transmission is autosomal recessive. |
Is a |
True |
Hereditary ataxia (disorder) |
Inferred relationship |
Some |
|
| A syndrome with the association of demyelinating leukodystrophy and progressive cerebellar ataxia, hypogonadotropic hypogonadism and hypodontia. It has been diagnosed in four unrelated patients. These symptoms suggest the association of a myelination defect (of the central and peripheral nervous systems) with an endocrinal deficiency of the pituitary gland. |
Is a |
True |
Hereditary ataxia (disorder) |
Inferred relationship |
Some |
|
| A rare autosomal recessive cerebellar ataxia characterized by onset of dystonia and other extrapyramidal signs, ataxia, oculomotor apraxia, and progressive sensorimotor polyneuropathy in the first decade of life. Patients present distal muscle weakness and atrophy, decreased vibratory sensation, and areflexia, and usually become wheelchair-bound by the third decade. Variable cognitive impairment may also be seen. |
Is a |
True |
Hereditary ataxia (disorder) |
Inferred relationship |
Some |
|
| A rare leukodystrophy characterized by a spectrum of progressive neurologic manifestations comprising rapidly progressive early-onset nystagmus, spastic tetraplegia, and visual and hearing impairment, resulting in death in early childhood, as well as later onset of slowly progressive complex spastic ataxia with pyramidal and cerebellar symptoms and loss of developmental milestones. Brain imaging shows diffuse hypomyelination of the subcortical and deep white matter, cerebellar atrophy, and diffuse spinal cord volume loss. |
Is a |
True |
Hereditary ataxia (disorder) |
Inferred relationship |
Some |
|
| A rare mitochondrial disease characterized by a variable clinical phenotype with the core features of optic atrophy, ataxia, and hypotonia. Additional common manifestations include global developmental delay with or without regression, neuropathy, spasticity, and microcephaly, less frequently seizures, movement disorder, hearing loss, and respiratory failure. Brain imaging may show abnormalities of the corpus callosum, basal ganglia, and midbrain, cerebral or cerebellar atrophy, or white matter abnormalities. The condition is frequently fatal at an early age. |
Is a |
True |
Hereditary ataxia (disorder) |
Inferred relationship |
Some |
|
| A rare slowly progressive autosomal recessive syndromic cerebellar ataxia characterized by late-onset cerebellar dysfunction (including gait and limb ataxia, nystagmus, and dysarthria), bilateral vestibulopathy (abnormal vestibulo-ocular reflex), and axonal sensory neuropathy. Variable features may include chronic cough and autonomic dysfunction. Brain imaging usually shows cerebellar atrophy. |
Is a |
True |
Hereditary ataxia (disorder) |
Inferred relationship |
Some |
|
| A rare genetic disease characterized by severe progressive sensorineural hearing loss and progressive cerebellar signs including gait ataxia, action tremor, dysmetria, dysdiadochokinesis, dysarthria, and nystagmus. Absence of deep tendon reflexes has also been reported. Age of onset is between infancy and adolescence. Brain imaging may show variable cerebellar atrophy in some patients. |
Is a |
True |
Hereditary ataxia (disorder) |
Inferred relationship |
Some |
|
| A rare mitochondrial myopathy characterized by motor developmental delay (in infancy), growth impairment and mostly proximal muscle weakness caused by a muscular dystrophy. Muscle biopsy presents myopathic abnormalities and decreased mtDNA content. Electromyography (EMG) shows a myopathic process and serum creatine kinase is increased. The disease is also characterized by early onset non-progressive cerebellar atrophy (particularly cerebellar vermis and hemispheres), corticospinal tract dysfunction, and global or partial cerebral atrophy on brain MRI. Additionally, some patients presented with cognitive deficiencies, skeletal abnormalities, tremors, and retinopathy. |
Is a |
True |
Hereditary ataxia (disorder) |
Inferred relationship |
Some |
|
| A rare autosomal recessive cerebellar ataxia characterized by early onset of slowly progressive cerebellar atrophy, clinically manifesting with extremity and truncal ataxia, global developmental delay, intellectual impairment, nystagmus, dysarthria, intention tremor, and pyramidal signs, among others. |
Is a |
True |
Hereditary ataxia (disorder) |
Inferred relationship |
Some |
|
| A rare genetic disease characterized by juvenile-onset insulin-dependent diabetes mellitus associated with central and peripheral nervous system abnormalities with variable onset between infancy and adolescence. Neurological manifestations include combined cerebellar and afferent ataxia, sensorineural hearing loss, pyramidal tract signs, and demyelinating sensorimotor peripheral neuropathy. Hypothyroidism has been reported in some patients. Brain imaging may show generalized cerebral atrophy. |
Is a |
True |
Hereditary ataxia (disorder) |
Inferred relationship |
Some |
|
| A rare genetic neurometabolic disease characterized by childhood onset of global developmental delay, progressive spastic ataxia leading to loss of independent ambulation, and elevated plasma levels of glutamine. Optic atrophy, tremor, and dysarthria have also been reported. Brain imaging may show cerebellar atrophy. |
Is a |
True |
Hereditary ataxia (disorder) |
Inferred relationship |
Some |
|
| Chorea due to hereditary ataxia (disorder) |
Due to |
True |
Hereditary ataxia (disorder) |
Inferred relationship |
Some |
2 |
| A rare multiple congenital anomalies/dysmorphic syndrome with intellectual disability characterized by global developmental delay, postnatal microcephaly, intellectual disability, ataxia, sensorineural hearing loss, and exocrine pancreatic insufficiency. More variable manifestations include hypotonia, growth retardation, peripheral demyelinating neuropathy, dysmorphic facial features, and additional endocrine abnormalities. Brain imaging may show progressive cerebellar atrophy in some patients. |
Is a |
True |
Hereditary ataxia (disorder) |
Inferred relationship |
Some |
|
| Friedreich ataxia |
Is a |
True |
Hereditary ataxia (disorder) |
Inferred relationship |
Some |
|
| A clinically heterogeneous progressive condition with characteristics of a combination of proximal neurogenic muscle weakness, sensory-motor neuropathy, ataxia, and pigmentary retinopathy. NARP syndrome is a maternally inherited syndrome and women can transmit to all their offspring. Clinical severity usually depends on the mutation load. |
Is a |
True |
Hereditary ataxia (disorder) |
Inferred relationship |
Some |
|
| A rare genetic neurological disorder with characteristics of hypomyelination of early myelinating structures such as the brainstem, cerebellar white matter, optic radiation, and periventricular white matter, while structures acquiring myelin later are better myelinated. Patients present in infancy with nystagmus, developmental delay, and progressive ataxic-spastic or ataxic syndrome. Cognitive functions are normal or only mildly impaired. |
Is a |
True |
Hereditary ataxia (disorder) |
Inferred relationship |
Some |
|
| A rare genetic neurological syndrome with characteristics of cerebellar ataxia, neurodevelopmental delay, poor motor development and growth, mild to severe intellectual disability and infantile-onset hypotonia. Many patients have cardiac conduction and rhythm anomalies (including bundle branch block, bradycardia, sinus node dysfunction, intraventricular conduction delay, atrioventricular block, and ventricular tachycardia) in childhood or adolescence. Additional clinical features may include variable ocular anomalies and dysmorphic features. |
Is a |
True |
Hereditary ataxia (disorder) |
Inferred relationship |
Some |
|
| A congenital disorder characterized by nonprogressive cerebellar ataxia, associated with a moderate to profound intellectual disability and delayed ambulation. Gait can be either bipedal or quadrupedal. Additional features include hypotonia, lack of coordination, delayed motor development, seizures, dysarthria, strabismus, short stature, and pes planus. Etiological subtypes have been reported and include type 1 (CAMRQ1), 2 (CAMRQ2), 3 (CAMRQ3) and 4 (CAMRQ4) which are attributed to mutations in VLDLR (9p24), CA8 (8q12.1), WDR81 (17p13.3) and ATP8A2 (13q12) genes, respectively. Transmission is autosomal recessive. |
Is a |
True |
Hereditary ataxia (disorder) |
Inferred relationship |
Some |
|
FHIR