Inbound Relationships |
Type |
Active |
Source |
Characteristic |
Refinability |
Group |
A rare complex hereditary spastic paraplegia characterized by adulthood-onset of slowly progressive, bilateral, mainly lower limb spasticity and distal weakness associated with lower limb pain, hyperreflexia, and reduced vibration sense. Axonal neuropathy is frequently observed on electromyography and nerve conduction examination. |
Finding site |
False |
Spinal cord structure |
Inferred relationship |
Some |
2 |
Autosomal recessive spastic paraplegia type 27 is a rare, pure or complex hereditary spastic paraplegia characterized by a variable onset of slowly progressive lower limb spasticity, hyperreflexia and extensor plantar responses, that may be associated with sensorimotor polyneuropathy, decreased vibration sense, lower limb distal muscle wasting, dysarthria and mild to moderate intellectual disability. |
Finding site |
True |
Spinal cord structure |
Inferred relationship |
Some |
1 |
Wind-up test |
Procedure site - Direct (attribute) |
True |
Spinal cord structure |
Inferred relationship |
Some |
1 |
A rare, complex hereditary spastic paraplegia disorder characterized by infantile onset of progressive lower limb spasticity, global developmental delay, hyperreflexia, clonus and extensor plantar reflexes, associated with dysarthria, intellectual disability, cataracts and hearing impairment. |
Finding site |
True |
Spinal cord structure |
Inferred relationship |
Some |
1 |
Autosomal recessive spastic paraplegia type 60 is a rare, complex hereditary spastic paraplegia disorder characterized by infantile onset of progressive lower limb spasticity, inability to walk, hypertonia and impaired vibration sense at ankles, with complicating signs including sensory impairment, nystagmus, motor axonal neuropathy and mild intellectual disability. |
Finding site |
True |
Spinal cord structure |
Inferred relationship |
Some |
1 |
A type of autosomal recessive pure hereditary spastic paraplegia characterized by infancy onset of crural spastic paraparesis with scissors gait, extensor plantar response, and increased tendon reflexes. Neuroimaging reveals a thin corpus callosum and electromyography and nerve conduction velocity studies are normal. |
Finding site |
True |
Spinal cord structure |
Inferred relationship |
Some |
1 |
A rare autosomal dominant pure hereditary spastic paraplegia characterized by early childhood onset of slowly progressive crural spastic paraparesis presenting with spastic gait, mild stiffness at rest, hyperreflexia (in lower limbs), extensor plantar responses and, in some, mild postural tremor, pes cavus, sphincter disturbances and sensory loss at ankles. |
Finding site |
True |
Spinal cord structure |
Inferred relationship |
Some |
1 |
A rare hereditary ataxia characterized by progressive truncal and limb ataxia resulting in gait instability. Dysarthria, dysphagia, nystagmus, spasticity of the lower limbs, mild peripheral sensory neuropathy, cognitive impairment and accelerated ageing have also been associated. |
Finding site |
True |
Spinal cord structure |
Inferred relationship |
Some |
2 |
A rare, pure or complex form of hereditary spastic paraplegia, with variable phenotype, typically characterized by childhood-onset of minimally progressive, bilateral, mainly symmetric lower limb spasticity and weakness, associated with pes cavus, scoliosis, sphincter disturbances and/or urinary bladder hyperactivity. Rare additional associated manifestations may include mild intellectual disability, axonal motor neuropathy, and seizures. |
Finding site |
True |
Spinal cord structure |
Inferred relationship |
Some |
1 |
Autosomal recessive spastic paraplegia type 14 is a rare, complex hereditary spastic paraplegia characterized by adulthood-onset of slowly progressive spastic paraplegia of lower limbs presenting with spastic gait, hyperreflexia, and mild lower limb hypertonicity associated with mild intellectual disability, visual agnosia, short and long-term memory deficiency and mild distal motor neuropathy. Bilateral pes cavus and extensor plantar responses are also associated. |
Finding site |
True |
Spinal cord structure |
Inferred relationship |
Some |
1 |
A rare, hereditary, cerebellar ataxia disorder characterized by late-onset spinocerebellar ataxia, manifesting with slowly progressive gait disturbances, dysarthria, limb and truncal ataxia, and smooth-pursuit eye movement disturbance, associated with a history of psychomotor delay from childhood. Mild atrophy of the cerebellar vermis and hemispheres is observed on brain imaging. |
Finding site |
True |
Spinal cord structure |
Inferred relationship |
Some |
2 |
A rare, pure or complex form of hereditary spastic paraplegia characterized by progressive spastic paraplegia with pyramidal signs in the upper and lower limbs, and decreased vibration sense. |
Finding site |
True |
Spinal cord structure |
Inferred relationship |
Some |
1 |
A rare form of hereditary spastic paraplegia characterized by delayed walking, toe walking, unsteady and spastic gait, hyperreflexia of the lower limbs, and extensor plantar responses. Upper limbs spasticity and dystonia, subclinical axonal neuropathy, cognitive impairment and intellectual disability have also been associated. |
Finding site |
True |
Spinal cord structure |
Inferred relationship |
Some |
1 |
Thoracic myelocele |
Finding site |
False |
Spinal cord structure |
Inferred relationship |
Some |
1 |
Paraneoplastic encephalomyelitis (disorder) |
Finding site |
True |
Spinal cord structure |
Inferred relationship |
Some |
2 |
Meningoencephalomyelitis |
Finding site |
True |
Spinal cord structure |
Inferred relationship |
Some |
2 |
A rare, genetic, autosomal recessive cerebellar ataxia disease characterized by adulthood-onset of slowly progressive spinocerebellar ataxia, manifesting with gait and appendicular ataxia, dysarthria, ocular movement anomalies (e.g. horizontal, vertical, and/or downbeat nystagmus, hypermetric saccades), increased deep tendon reflexes and progressive cognitive decline. Additional variable features may include proximal leg muscle wasting and fasciculations, pes cavus, inspiratory stridor, epilepsy, retinal degeneration and cataracts. Brain imaging reveals marked cerebellar atrophy and electromyography shows evidence of lower motor neuron involvement. |
Finding site |
True |
Spinal cord structure |
Inferred relationship |
Some |
2 |
Postvaccinal encephalomyelitis |
Finding site |
False |
Spinal cord structure |
Inferred relationship |
Some |
2 |
A very rare, pure form of spastic paraplegia characterized by an onset in infancy of lower limb spasticity associated with gait disturbances, scissor gait, tiptoe walking, clonus and increased deep tendon reflexes. Mild upper limb involvement may occasionally also be associated. |
Finding site |
True |
Spinal cord structure |
Inferred relationship |
Some |
1 |
A rare, pure or complex form of hereditary spastic paraplegia characterized by early adulthood onset of slowly progressive lower limb spasticity resulting in gait disturbances, hyperreflexia and extensor plantar responses, urinary urgency and/or incontinence, muscle weakness, decreased vibration sense and mild muscular atrophy in lower extremities. It may be associated with complicating signs, such as sensory neuropathy, ataxia (i.e. mild dysmetria, uncoordinated eye movement) and mild dysphagia. |
Finding site |
True |
Spinal cord structure |
Inferred relationship |
Some |
1 |
Diphtheria radiculomyelitis |
Finding site |
False |
Spinal cord structure |
Inferred relationship |
Some |
3 |
A rare genetic peripheral neuropathy characterized by early hypotonia evolving to spastic paraparesis, areflexia, decreased pain and temperature sensitivity, autonomic neuropathy, gastroesophageal reflux disease, recurrent pneumonia and respiratory problems. Patients also have intellectual disability and dysmorphic features, including mild brachycephalic microcephaly, short broad neck, low anterior hairline and coarse face. |
Finding site |
True |
Spinal cord structure |
Inferred relationship |
Some |
1 |
A rare, genetic, autosomal recessive cerebellar ataxia disease characterized by slowly progressive spinocerebellar ataxia developing during childhood, manifesting with gait and limb ataxia, postural tremor, dysarthria, sensory alterations (e.g. decreased vibration sense), eye movement anomalies (i.e. nystagmus, saccadic pursuit, oculomotor apraxia), upper and lower limb fasciculations, and hyperreflexia with Babinski signs. Brain imaging reveals cerebellar, pontine, vermian and medullar atrophy. |
Finding site |
True |
Spinal cord structure |
Inferred relationship |
Some |
2 |
Acute disseminated encephalomyelitis |
Finding site |
True |
Spinal cord structure |
Inferred relationship |
Some |
5 |
A rare, complex hereditary spastic paraplegia disorder characterized by infantile onset of progressive lower limb spasticity, severe gait disturbances leading to a non-ambulatory state, absent deep tendon reflexes and amyotrophy. Additional signs include severe sensorimotor neuropathy, pes equinovarus and mild intellectual disability. Cerebellar and corpus callosum hypoplasia, as well as colpocephaly, are observed on neuroimaging. |
Finding site |
True |
Spinal cord structure |
Inferred relationship |
Some |
1 |
A complex hereditary spastic paraplegia characterised by mild to severe lower limb spasticity, hyperreflexia, extensor plantar responses, impaired vibration sensation, pes cavus, and significant wasting and weakness of the small hand muscles. Temporal lobe epilepsy and cognitive dysfunction have been also reported. |
Finding site |
True |
Spinal cord structure |
Inferred relationship |
Some |
1 |
Granulomatous meningoencephalomyelitis |
Finding site |
True |
Spinal cord structure |
Inferred relationship |
Some |
3 |
Acute hemorrhagic leukoencephalitis |
Finding site |
True |
Spinal cord structure |
Inferred relationship |
Some |
3 |
An extremely rare, autosomal recessive, hereditary cerebellar ataxia disorder characterized by early onset of progressive, mild to moderate gait and limb ataxia, moderate to severe dysarthria, and nystagmus or saccadic pursuit, frequently associated with epilepsy, moderate intellectual disability, delayed speech acquisition, and hyporeflexia in the upper extremities. Hyperreflexia in the lower extremities may also be associated. |
Finding site |
True |
Spinal cord structure |
Inferred relationship |
Some |
2 |
Meningomyelitis |
Finding site |
True |
Spinal cord structure |
Inferred relationship |
Some |
2 |
Bacterial meningomyelitis (disorder) |
Finding site |
True |
Spinal cord structure |
Inferred relationship |
Some |
2 |
Hydromyelocele with hydrocephalus |
Finding site |
False |
Spinal cord structure |
Inferred relationship |
Some |
3 |
Pyogranulomatous meningoencephalomyelitis |
Finding site |
True |
Spinal cord structure |
Inferred relationship |
Some |
3 |
Acute disseminated encephalomyelitis following infectious disease (disorder) |
Finding site |
True |
Spinal cord structure |
Inferred relationship |
Some |
3 |
A complex, hereditary, spastic paraplegia characterized by delayed motor development, spasticity, and inability to walk, later progressing to quadriplegia, motor aphasia, bowel and bladder dysfunction. Patients also present with vision problems and mild intellectual disability. The disease affects only males. |
Finding site |
True |
Spinal cord structure |
Inferred relationship |
Some |
1 |
Acquired myelocele |
Finding site |
True |
Spinal cord structure |
Inferred relationship |
Some |
2 |
Diphtheria radiculomyelitis |
Finding site |
True |
Spinal cord structure |
Inferred relationship |
Some |
1 |
Acute non-infective transverse myelitis |
Finding site |
True |
Spinal cord structure |
Inferred relationship |
Some |
1 |
Acute disseminated encephalomyelitis following infectious disease (disorder) |
Finding site |
True |
Spinal cord structure |
Inferred relationship |
Some |
1 |
Multiple sclerosis of the spinal cord |
Finding site |
True |
Spinal cord structure |
Inferred relationship |
Some |
2 |
Neuromyelitis optica |
Finding site |
True |
Spinal cord structure |
Inferred relationship |
Some |
4 |
Neuromyelitis optica |
Finding site |
True |
Spinal cord structure |
Inferred relationship |
Some |
2 |
Encephalomyelitis caused by lymphocytic choriomeningitis virus (disorder) |
Finding site |
True |
Spinal cord structure |
Inferred relationship |
Some |
1 |
hydromyélocèle |
Finding site |
False |
Spinal cord structure |
Inferred relationship |
Some |
3 |
Spinocerebellar ataxia type 36 (disorder) |
Finding site |
True |
Spinal cord structure |
Inferred relationship |
Some |
1 |
A very rare subtype of autosomal dominant cerebellar ataxia type III (ADCA type III) characterised by late-onset and slowly progressive cerebellar signs (gait ataxia) and eye movement abnormalities. |
Finding site |
True |
Spinal cord structure |
Inferred relationship |
Some |
1 |
Spinocerebellar ataxia type 25 (SCA25) is a very rare subtype of type I autosomal dominant cerebellar ataxia. It is characterized by cerebellar ataxia and prominent sensory neuropathy. |
Finding site |
True |
Spinal cord structure |
Inferred relationship |
Some |
1 |
Spinocerebellar ataxia type 20 (SCA20) is a very rare subtype of type I autosomal dominant cerebellar ataxia. It is characterized by cerebellar dysarthria as the initial typical manifestation. |
Finding site |
True |
Spinal cord structure |
Inferred relationship |
Some |
1 |
Spinocerebellar ataxia type 23 (SCA23) is a very rare subtype of type I autosomal dominant cerebellar ataxia. It is characterized by gait ataxia, dysarthria, slowed saccades, ocular dysmetria, Babinski sign and hyperreflexia. |
Finding site |
True |
Spinal cord structure |
Inferred relationship |
Some |
1 |
Spinocerebellar ataxia type 21 (SCA21) is a very rare subtype of type I autosomal dominant cerebellar ataxia. It is characterized by slowly progressive cerebellar ataxia, mild cognitive impairment, postural and/or resting tremor, bradykinesia, and rigidity. |
Finding site |
True |
Spinal cord structure |
Inferred relationship |
Some |
1 |
A rare neurologic disease that is characterized by the early onset of cerebellar signs, eye movement abnormalities and pyramidal signs. |
Finding site |
True |
Spinal cord structure |
Inferred relationship |
Some |
1 |
Spinocerebellar ataxia type 12 (SCA12) is a very rare subtype of type I autosomal dominant cerebellar ataxia. It is characterized by the presence of action tremor associated with relatively mild cerebellar ataxia. Associated pyramidal and extrapyramidal signs and dementia have been reported. |
Finding site |
True |
Spinal cord structure |
Inferred relationship |
Some |
1 |
Spinocerebellar ataxia type 13 (SCA13) is a very rare subtype of type I autosomal dominant cerebellar ataxia. It is characterized by onset in childhood marked by delayed motor and cognitive development followed by mild progression of cerebellar ataxia. |
Finding site |
True |
Spinal cord structure |
Inferred relationship |
Some |
1 |
Spinocerebellar ataxia type 14 (SCA14) is a rare mild subtype of type I autosomal dominant cerebellar ataxia. It is characterized by slowly progressive ataxia, dysarthria and nystagmus. |
Finding site |
True |
Spinal cord structure |
Inferred relationship |
Some |
1 |
Spinocerebellar ataxia type 17 (SCA17) is a rare subtype of type I autosomal dominant cerebellar ataxia. It is characterized by a variable clinical picture which can include dementia, psychiatric disorders, parkinsonism, dystonia, chorea, spasticity, and epilepsy. |
Finding site |
True |
Spinal cord structure |
Inferred relationship |
Some |
1 |
Spinocerebellar ataxia type 18 (SCA18) is a very rare subtype of type I autosomal dominant cerebellar ataxia. It is characterized by sensory neuropathy and cerebellar ataxia. |
Finding site |
True |
Spinal cord structure |
Inferred relationship |
Some |
1 |
Spinocerebellar ataxia type 19 (SCA19) is a very rare subtype of type I autosomal dominant cerebellar ataxia. It is characterized by mild cerebellar ataxia, cognitive impairment, low scores on the Wisconsin Card Sorting Test measuring executive function, myoclonus, and postural tremor. |
Finding site |
True |
Spinal cord structure |
Inferred relationship |
Some |
1 |
Spinocerebellar ataxia type 27 (SCA27) is a very rare subtype of type I autosomal dominant cerebellar ataxia. It is characterized by early onset tremor, dyskinesia, and slowly progressive cerebellar ataxia. |
Finding site |
True |
Spinal cord structure |
Inferred relationship |
Some |
1 |
An autosomal dominant cerebellar ataxia type III that is characterized by a slowly progressive and relatively pure ataxia. |
Finding site |
True |
Spinal cord structure |
Inferred relationship |
Some |
1 |
An autosomal dominant cerebellar ataxia type 1 that is characterized by ataxia and cognitive impairment. Azoospermia is a typical feature in affected males. |
Finding site |
True |
Spinal cord structure |
Inferred relationship |
Some |
1 |
An autosomal dominant cerebellar ataxia type I that is characterized by papulosquamous, ichthyosiform plaques on the limbs appearing shortly after birth and later manifestations including progressive ataxia, dysarthria, nystagmus and decreased reflexes. |
Finding site |
True |
Spinal cord structure |
Inferred relationship |
Some |
3 |
An autosomal dominant cerebellar ataxia type 1 that is characterized by the adult-onset of progressive gait and limb ataxia, dysarthria, ocular dysmetria, intention tremor of hands, hyperreflexia and spasmodic torticollis. |
Finding site |
True |
Spinal cord structure |
Inferred relationship |
Some |
1 |
An autosomal dominant cerebellar ataxia type 1 that is characterized by a cerebellar syndrome along with altered vertical eye movements. |
Finding site |
True |
Spinal cord structure |
Inferred relationship |
Some |
1 |
An autosomal dominant cerebellar ataxia type III that is characterized by the early onset of cerebellar signs with eye movement abnormalities and a very slow disease progression. |
Finding site |
True |
Spinal cord structure |
Inferred relationship |
Some |
1 |
A rare syndromic, inherited form of sideroblastic anemia characterized by mild to moderate anemia (with hypochromia and microcytosis) and early-onset, non- or slowly progressive spinocerebellar ataxia. |
Finding site |
True |
Spinal cord structure |
Inferred relationship |
Some |
2 |
X-linked spinocerebellar ataxia type 3 is a form of spinocerebellar degeneration characterized by onset in infancy of hypotonia, ataxia, sensorineural deafness, developmental delay, esotropia, and optic atrophy, and by a progressive course leading to death in childhood. It has been described in one family with at least six affected males from five different sibships (connected through carrier females). It is transmitted as an X-linked recessive trait. |
Finding site |
True |
Spinal cord structure |
Inferred relationship |
Some |
1 |
A rare X-linked spinocerebellar ataxia characterized by ataxia, pyramidal tract signs and adult-onset dementia. The disease manifests during early childhood with delayed walking and tremor. The pyramidal signs appear progressively and by adulthood memory problems and dementia gradually become apparent. |
Finding site |
True |
Spinal cord structure |
Inferred relationship |
Some |
1 |
A rare, genetic, neurological disorder characterized by the association of slowly progressive spinocerebellar degeneration and corneal dystrophy, manifesting with bilateral corneal opacities (which lead to severe visual impairment), mild intellectual disability, ataxia, gait disturbances, and tremor. Additional manifestations include facial dysmorphism (i.e. triangular face, ptosis, low-set, posteriorly angulated ears, and micrognathia), as well as mild upper motor neuron involvement with hypertonia, lower limb hyperreflexia and extensor plantar responses. There have been no further descriptions in the literature since 1985. |
Finding site |
True |
Spinal cord structure |
Inferred relationship |
Some |
2 |
Infantile-onset spinocerebellar ataxia (IOSCA) is a hereditary neurological disorder with early and severe involvement of both the peripheral and central nervous systems. It has only been described in Finnish families. |
Finding site |
True |
Spinal cord structure |
Inferred relationship |
Some |
2 |
X-linked hereditary spastic paraplegia (disorder) |
Finding site |
False |
Spinal cord structure |
Inferred relationship |
Some |
2 |
Spastic paraplegia-nephritis-deafness syndrome is a complex form of hereditary spastic paraplegia characterized by progressive, variable spastic paraplegia associated with bilateral sensorineural deafness, intellectual disability, and progressive nephropathy. There have been no further descriptions in the literature since 1988. |
Finding site |
False |
Spinal cord structure |
Inferred relationship |
Some |
5 |
Richards-Rundle syndrome is an extremely rare neurodegenerative disorder characterized by progressive spinocerebellar ataxia, sensorineural hearing loss, and hypergonadotropic hypogonadism associated with additional neurological manifestations (such as peripheral muscle wasting, nystagmus, intellectual disability or dementia) and ketoaciduria. |
Finding site |
True |
Spinal cord structure |
Inferred relationship |
Some |
2 |
An autosomal dominant cerebellar ataxia type II that is characterized by progressive ataxia, motor system abnormalities, dysarthria, dysphagia and retinal degeneration leading to progressive blindness. |
Finding site |
True |
Spinal cord structure |
Inferred relationship |
Some |
1 |
Spinocerebellar ataxia type 1 (SCA1) is a subtype of type I autosomal dominant cerebellar ataxia characterized by dysarthria, writing difficulties, limb ataxia, and commonly nystagmus and saccadic abnormalities. |
Finding site |
True |
Spinal cord structure |
Inferred relationship |
Some |
1 |
Spinocerebellar ataxia type 2 (SCA2) is a subtype of type I autosomal dominant cerebellar ataxia characterized by truncal ataxia, dysarthria, slowed saccades and less commonly ophthalmoparesis and chorea. |
Finding site |
True |
Spinal cord structure |
Inferred relationship |
Some |
1 |
An autosomal dominant cerebellar ataxia type III that is characterized by late-onset and slowly progressive gait ataxia and other cerebellar signs such as impaired muscle coordination and nystagmus. |
Finding site |
True |
Spinal cord structure |
Inferred relationship |
Some |
1 |
Spinocerebellar ataxia type 8 (SCA8) is a subtype of type I autosomal dominant cerebellar ataxia characterized by cerebellar ataxia and cognitive dysfunction in almost three quarters of patients and pyramidal and sensory signs in approximately a third of patients. |
Finding site |
True |
Spinal cord structure |
Inferred relationship |
Some |
1 |
Spinocerebellar ataxia type 10 (SCA10) is a subtype of type I autosomal dominant cerebellar ataxia. It is characterized by slowly progressive cerebellar syndrome and epilepsy, sometimes mild pyramidal signs, peripheral neuropathy and neuropsychological disturbances. |
Finding site |
True |
Spinal cord structure |
Inferred relationship |
Some |
1 |
Spinocerebellar ataxia type 4 (SCA4) is a very rare progressive and untreatable subtype of type I autosomal dominant cerebellar ataxia characterized by ataxia with sensory neuropathy. |
Finding site |
True |
Spinal cord structure |
Inferred relationship |
Some |
1 |
Spinocerebellar ataxia type 28 (SCA28) is a very rare subtype of type I autosomal dominant cerebellar ataxia. It is characterized by juvenile onset, slowly progressive cerebellar ataxia due to Purkinje cell degeneration. |
Finding site |
True |
Spinal cord structure |
Inferred relationship |
Some |
1 |
An autosomal dominant cerebellar ataxia type I that is characterized by very slowly progressive or non-progressive ataxia, dysarthria, oculomotor abnormalities and intellectual disability. |
Finding site |
True |
Spinal cord structure |
Inferred relationship |
Some |
1 |
An autosomal dominant cerebellar ataxia type III that is characterized by the late onset of ataxia, dysarthria and horizontal gaze nystagmus, and that is occasionally accompanied by pyramidal signs, tremor, decreased vibration sense and hearing difficulties. |
Finding site |
True |
Spinal cord structure |
Inferred relationship |
Some |
1 |
Spinocerebellar ataxia type 15/16 (SCA15/16) is a rare subtype of type I autosomal dominant cerebellar ataxia. It is characterized by cerebellar ataxia, tremor and cognitive impairment. |
Finding site |
True |
Spinal cord structure |
Inferred relationship |
Some |
1 |
Spinocerebellar ataxia type 40 (SCA40) is a very rare subtype of autosomal dominant cerebellar ataxia type 1, characterized by the adult-onset of unsteady gait and dysarthria, followed by wide-based gait, gait ataxia, ocular dysmetria, intention tremor, scanning speech, hyperreflexia and dysdiadochokinesis. |
Finding site |
True |
Spinal cord structure |
Inferred relationship |
Some |
2 |
Spinocerebellar ataxia type 38 (SCA38) is a subtype of autosomal dominant cerebellar ataxia type 3 characterized by the adult-onset (average age: 40 years) of truncal ataxia, gait disturbance and gaze-evoked nystagmus. The disease is slowly progressive with dysarthria and limb ataxia following. Additional manifestations include diplopia and axonal neuropathy. |
Finding site |
True |
Spinal cord structure |
Inferred relationship |
Some |
2 |
Myelitis co-occurrent with human immunodeficiency virus infection |
Finding site |
True |
Spinal cord structure |
Inferred relationship |
Some |
1 |
Spinocerebellar ataxia with axonal neuropathy type 1 is a rare, genetic neurological disorder characterized by a late childhood onset of slowly progressive cerebellar ataxia. Initial manifestations include weakness and atrophy of distal limb muscles, areflexia and loss of pain, vibration and touch sensations in upper and lower extremities. Gaze nystagmus, cerebellar dysarthria, peripheral neuropathy, steppage gait and pes cavus develop as disease progresses. Cerebellar atrophy (especially of the vermis) is present in all affected individuals. Additional reported manifestations include seizures, mild brain atrophy, mild hypercholesterolemia and borderline hypoalbuminemia. |
Finding site |
True |
Spinal cord structure |
Inferred relationship |
Some |
2 |
Azorean disease, type I |
Finding site |
True |
Spinal cord structure |
Inferred relationship |
Some |
1 |
Azorean disease, type II |
Finding site |
True |
Spinal cord structure |
Inferred relationship |
Some |
1 |
Azorean disease, type III |
Finding site |
True |
Spinal cord structure |
Inferred relationship |
Some |
1 |
Azorean disease, type IV |
Finding site |
True |
Spinal cord structure |
Inferred relationship |
Some |
1 |
A rare neuronal ceroid lipofuscinosis disorder characterized by juvenile-onset of progressive spinocerebellar ataxia, bulbar syndrome (manifesting with dysarthria, dysphagia and dysphonia), pyramidal and extrapyramidal involvement (including myoclonus, amyotrophy, unsteady gait, akinesia, rigidity, dysarthric speech) and intellectual deterioration. Muscle biopsy displays autofluorescent bodies and lipofuscin deposits in brain and, occasionally the retina, upon postmortem. |
Finding site |
True |
Spinal cord structure |
Inferred relationship |
Some |
2 |
A group of rare, genetic, neurodegenerative diseases characterized by an infancy- to childhood-onset of progressive spastic paraplegia (with delayed motor milestones, gait disturbances, hyperreflexia and extensor plantar responses), optic atrophy (which may be accompanied by nystagmus and visual loss) and progressive peripheral neuropathy (with sensory impairment and distal muscle weakness/atrophy in upper and lower extremities). Additional signs may include foot deformities, spinal defects (scoliosis, kyphosis), joint contractures, exaggerated startle response, speech disorders, hyperhidrosis, extrapyramidal signs and intellectual disability. In very rare cases, a variant phenotype with less prominent or absent optic atrophy and/or neuropathy may be observed. |
Finding site |
True |
Spinal cord structure |
Inferred relationship |
Some |
1 |
Metastatic malignant neoplasm to brain and spinal cord |
Finding site |
True |
Spinal cord structure |
Inferred relationship |
Some |
2 |
Recurrent atlantoaxial subluxation with myelopathy |
Finding site |
True |
Spinal cord structure |
Inferred relationship |
Some |
3 |
Open spinal subluxation with anterior cervical cord lesion |
Finding site |
False |
Spinal cord structure |
Inferred relationship |
Some |
4 |
Open spinal dislocation with anterior lumbar cord lesion |
Finding site |
False |
Spinal cord structure |
Inferred relationship |
Some |
4 |
Dermoid cyst of spinal cord (disorder) |
Finding site |
True |
Spinal cord structure |
Inferred relationship |
Some |
1 |
Acute hemorrhagic leukoencephalitis |
Finding site |
True |
Spinal cord structure |
Inferred relationship |
Some |
7 |
Abscess of spinal cord caused by fungus |
Finding site |
True |
Spinal cord structure |
Inferred relationship |
Some |
1 |
Cyst of spinal cord caused by parasite |
Finding site |
True |
Spinal cord structure |
Inferred relationship |
Some |
1 |