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107669003: Degenerative abnormality (morphologic abnormality)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2002. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
172105010 Degenerative abnormality en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
593391011 Degenerative abnormality (morphologic abnormality) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
65101000077112 anomalie dégénérative fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

201 descendants. Search Descendants:

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Degenerative abnormality Is a Morphologically abnormal structure true Inferred relationship Some
Inbound Relationships Type Active Source Characteristic Refinability Group
Neuronal ceroid lipofuscinosis 8 Associated morphology True Degenerative abnormality Inferred relationship Some 1
A rare systemic disorder characterised by vitreoretinal and macular degeneration, as well as occipital encephalocele. Associated morphology True Degenerative abnormality Inferred relationship Some 1
Infantile ascending hereditary spastic paralysis (disorder) Associated morphology True Degenerative abnormality Inferred relationship Some 1
Retinoschisis Associated morphology True Degenerative abnormality Inferred relationship Some 1
Juvenile cerebellar degeneration AND myoclonus Associated morphology True Degenerative abnormality Inferred relationship Some 1
Degeneration of intervertebral disc Associated morphology True Degenerative abnormality Inferred relationship Some 1
Nodular degeneration of cornea Associated morphology True Degenerative abnormality Inferred relationship Some 1
Nutritional muscular degeneration Associated morphology True Degenerative abnormality Inferred relationship Some 1
Hereditary choroidal dystrophy Associated morphology True Degenerative abnormality Inferred relationship Some 1
Primary localized osteoarthrosis of pelvic region Associated morphology True Degenerative abnormality Inferred relationship Some 1
Interphalangeal osteoarthritis Associated morphology False Degenerative abnormality Inferred relationship Some 1
Juvenile osteochondrosis of symphysis pubis Associated morphology False Degenerative abnormality Inferred relationship Some 2
An X-linked retinal dystrophy characterized by choroideremia, causing in affected males progressive nyctalopia and eventual central blindness. Obesity, moderate intellectual disability and congenital mixed (sensorineural and conductive) deafness are also observed. Female carriers show typical retinal changes indicative of the choroideremia carrier state. Associated morphology True Degenerative abnormality 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. Associated morphology True Degenerative abnormality 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. Associated morphology True Degenerative abnormality Inferred relationship Some 2
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. Associated morphology True Degenerative abnormality Inferred relationship Some 2
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. Associated morphology True Degenerative abnormality 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. Associated morphology True Degenerative abnormality 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. Associated morphology True Degenerative abnormality Inferred relationship Some 2
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. Associated morphology True Degenerative abnormality Inferred relationship Some 2
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. Associated morphology True Degenerative abnormality 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. Associated morphology True Degenerative abnormality 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. Associated morphology True Degenerative abnormality Inferred relationship Some 2
An X-linked syndromic intellectual disability characterized by a few months of normal development, followed by progressive neurodegenerative course with gradual loss of vision, development of spastic tetraplegia, convulsions, microcephaly, failure to thrive, and early death. Associated morphology True Degenerative abnormality Inferred relationship Some 1
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. Associated morphology True Degenerative abnormality Inferred relationship Some 1
A rare autosomal recessive complex spastic paraplegia characterized by upper motor neuron involvement and peripheral neuropathy with an onset between childhood and early adulthood. Patients present with progressive spasticity, hyperreflexia, and distal upper and lower muscle wasting. Reduced cognitive functioning and cerebellar ataxia have also been reported. MR imaging may reveal cerebellar and/or spinal cord atrophy. Associated morphology True Degenerative abnormality Inferred relationship Some 1
A rare neurologic disease that is characterized by the early onset of cerebellar signs, eye movement abnormalities and pyramidal signs. Associated morphology True Degenerative abnormality Inferred relationship Some 2
A rare neurologic disease that is characterized by the early onset of cerebellar signs, eye movement abnormalities and pyramidal signs. Associated morphology True Degenerative abnormality 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. Associated morphology True Degenerative abnormality Inferred relationship Some 2
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. Associated morphology True Degenerative abnormality 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. Associated morphology True Degenerative abnormality Inferred relationship Some 2
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. Associated morphology True Degenerative abnormality 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. Associated morphology True Degenerative abnormality 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. Associated morphology True Degenerative abnormality Inferred relationship Some 2
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. Associated morphology True Degenerative abnormality 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. Associated morphology True Degenerative abnormality Inferred relationship Some 2
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. Associated morphology True Degenerative abnormality 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. Associated morphology True Degenerative abnormality Inferred relationship Some 2
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. Associated morphology True Degenerative abnormality 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. Associated morphology True Degenerative abnormality Inferred relationship Some 2
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. Associated morphology True Degenerative abnormality 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. Associated morphology True Degenerative abnormality Inferred relationship Some 2
An autosomal dominant cerebellar ataxia type III that is characterized by a slowly progressive and relatively pure ataxia. Associated morphology True Degenerative abnormality Inferred relationship Some 1
An autosomal dominant cerebellar ataxia type III that is characterized by a slowly progressive and relatively pure ataxia. Associated morphology True Degenerative abnormality Inferred relationship Some 2
An autosomal dominant cerebellar ataxia type 1 that is characterized by ataxia and cognitive impairment. Azoospermia is a typical feature in affected males. Associated morphology True Degenerative abnormality 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. Associated morphology True Degenerative abnormality Inferred relationship Some 2
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. Associated morphology True Degenerative abnormality Inferred relationship Some 4
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. Associated morphology True Degenerative abnormality 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. Associated morphology True Degenerative abnormality Inferred relationship Some 2
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. Associated morphology True Degenerative abnormality Inferred relationship Some 1
An autosomal dominant cerebellar ataxia type 1 that is characterized by a cerebellar syndrome along with altered vertical eye movements. Associated morphology True Degenerative abnormality Inferred relationship Some 1
An autosomal dominant cerebellar ataxia type 1 that is characterized by a cerebellar syndrome along with altered vertical eye movements. Associated morphology True Degenerative abnormality Inferred relationship Some 2
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. Associated morphology True Degenerative abnormality 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. Associated morphology True Degenerative abnormality Inferred relationship Some 2
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. Associated morphology True Degenerative abnormality Inferred relationship Some 2
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. Associated morphology True Degenerative abnormality Inferred relationship Some 5
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. Associated morphology True Degenerative abnormality 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. Associated morphology True Degenerative abnormality 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. Associated morphology True Degenerative abnormality 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. Associated morphology True Degenerative abnormality Inferred relationship Some 2
A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by developmental delay, neuropathic visceral dysmotility (resulting in neurogenic megacystis and sometimes chronic intestinal pseudo-obstruction syndrome), intracerebral calcifications, and dysmorphic facial features (including broad forehead, downslanted palpebral fissures, strabismus, protruding and low-set ears, and retrognathia). Microcephaly and renal abnormalities have also been reported. Associated morphology True Degenerative abnormality Inferred relationship Some 3
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. Associated morphology True Degenerative abnormality 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. Associated morphology True Degenerative abnormality Inferred relationship Some 2
Neuronal ceroid lipofuscinosis due to deficiency of cathepsin D (disorder) Associated morphology True Degenerative abnormality Inferred relationship Some 2
Disease with characteristics of delayed motor development, hypotonia and progressive neurodegeneration. To date, it has been described in four boys. The syndrome is caused by mutations affecting the two alleles of the HIBCH gene, encoding 3-hydroxyisobutyryl-CoA hydrolase which is caused by homozygous or compound heterozygous mutation in the HIBCH gene on chromosome 2q32. Associated morphology True Degenerative abnormality Inferred relationship Some 2
Non-amnestic Alzheimer disease (disorder) Associated morphology True Degenerative abnormality Inferred relationship Some 1
Adult retinoschisis (disorder) Associated morphology True Degenerative abnormality Inferred relationship Some 1
Primary progressive apraxia of speech (disorder) Associated morphology True Degenerative abnormality Inferred relationship Some 1
Choroideremia Associated morphology True Degenerative abnormality Inferred relationship Some 1
Facial onset sensory and motor neuronopathy is characterised initially by paraesthesia and numbness in the region of the trigeminal nerve distribution, which later progresses to involve the scalp, neck, upper trunk and upper limbs. Onset of motor manifestations occurs later with cramps, fasciculations, dysphagia, dysarthria, muscle weakness and atrophy. This syndrome has been described in four males and appears to be a slowly progressive neurodegenerative disease. Associated morphology True Degenerative abnormality Inferred relationship Some 1
Hypotrichosis with juvenile macular degeneration (HJMD) is a very rare syndrome characterized by sparse and short hair from birth followed by progressive macular degeneration leading to blindness. Associated morphology True Degenerative abnormality Inferred relationship Some 2
A rare, X-linked leukodystrophy characterized primarily by spastic gait and autonomic dysfunction. When additional central nervous system (CNS) signs, such as intellectual deficit, ataxia, or extrapyramidal signs, are present, the syndrome is referred to as complicated SPG. Associated morphology True Degenerative abnormality Inferred relationship Some 1
A complex form of hereditary spastic paraplegia, characterized by an onset in childhood or adulthood of progressive spastic paraplegia (with spastic gait, spasticity, lower limb weakness, pes cavus and urinary urgency) associated with the additional manifestation of peripheral sensorimotor neuropathy. Associated morphology False Degenerative abnormality Inferred relationship Some 1
A rare form of hereditary spastic paraplegia with high intrafamilial clinical variability, characterized in most cases as a pure phenotype with an adult onset (mainly the 3rd to 5th decade of life, but that can present at any age) of progressive gait impairment due to bilateral lower-limb spasticity and weakness as well as very mild proximal weakness and urinary urgency. In some cases, a complex phenotype is also reported with additional manifestations including cognitive impairment, cerebellar ataxia, epilepsy and neuropathy. A faster disease progression is noted in patients with a later age of onset. Associated morphology True Degenerative abnormality Inferred relationship Some 1
Autosomal recessive spastic paraplegia type 44 (SPG44) is a very rare, complex form of hereditary spastic paraplegia characterized by a late-onset, slowly progressive spastic paraplegia associated with mild ataxia and dysarthria, upper extremity involvement (i.e. loss of finger dexterity, dysmetria), and mild cognitive impairment, without the presence of nystagmus. A hypomyelinating leukodystrophy and thin corpus callosum is observed in all cases and psychomotor development is normal or near normal. SPG44 is caused by mutations in the GJC2 gene (1q41-q42) encoding the gap junction gamma-2 protein. Associated morphology True Degenerative abnormality Inferred relationship Some 1
Autosomal recessive spastic paraplegia type 46 (SPG46) is a rare, complex type of hereditary spastic paraplegia characterized by an onset, in infancy or childhood, of the typical signs of spastic paraplegia (i.e. spastic gait and weakness of the lower limbs) associated with a variety of additional manifestations including upper limb spasticity and weakness, pseudobulbar dysarthria, bladder dysfunction, cerebellar ataxia, cataracts, and cognitive impairment that can progress to dementia. Brain imaging may show thinning of the corpus callosum and mild atrophy of the cerebrum and cerebellum. SPG46 is due to mutations in the GBA2 gene (9p13.2) encoding non-lysosomal glucosylceramidase. Associated morphology True Degenerative abnormality Inferred relationship Some 1
Autosomal recessive spastic paraplegia type 53 (SPG53) is a very rare, complex type of hereditary spastic paraplegia characterized by early-onset spastic paraplegia (with spasticity in the lower extremities that progresses to the upper extremities) associated with developmental and motor delay, mild to moderate cognitive and speech delay, skeletal dysmorphism (e.g. kyphosis and pectus), hypertrichosis and mildly impaired vibration sense. SPG53 is due to mutations in the VPS37A gene (8p22) encoding vacuolar protein sorting-associated protein 37A. Associated morphology True Degenerative abnormality Inferred relationship Some 1
Autosomal recessive spastic paraplegia type 54 (SPG54) is a rare, complex form of hereditary spastic paraplegia characterized by the onset in early childhood of progressive spastic paraplegia associated with cerebellar signs, short stature, delayed psychomotor development, intellectual disability and, less commonly, foot contractures, dysarthria, dysphagia, strabismus and optic hypoplasia. SPG54 is caused by mutations in the DDHD2 gene (8p11.23) encoding phospholipase DDHD2. Associated morphology True Degenerative abnormality Inferred relationship Some 1
Autosomal recessive spastic paraplegia type 55 (SPG 55) is a rare, complex type of hereditary spastic paraplegia characterized by childhood onset of progressive spastic paraplegia associated with optic atrophy (with reduced visual acuity and central scotoma), ophthalmoplegia, reduced upper-extremity strength and dexterity, muscular atrophy in the lower extremities, and sensorimotor neuropathy. SPG55 is caused by mutations in the C12ORF65 gene (12q24.31) encoding probable peptide chain release factor C12orf65, mitochondrial. Associated morphology True Degenerative abnormality Inferred relationship Some 1
Autosomal recessive spastic paraplegia type 57 (SPG57) is an extremely rare, complex type of hereditary spastic paraplegia, characterized by onset in infancy of pronounced leg spasticity (leading to the inability to walk independently), reduced visual acuity due to optic atrophy, and distal wasting of the hands and feet due to an axonal demyelinating sensorimotor neuropathy. SPG57 is caused by mutations in the TFG gene (3q12.2) encoding protein TFG, which is thought to play a role in ER microtubular architecture and function. Associated morphology True Degenerative abnormality Inferred relationship Some 1
Retinohepatoendocrinologic syndrome (disorder) Associated morphology True Degenerative abnormality Inferred relationship Some 1
Chronic degeneration of tendon without inflammation. Associated morphology True Degenerative abnormality 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. Associated morphology True Degenerative abnormality 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. Associated morphology True Degenerative abnormality Inferred relationship Some 1
Intervertebral disc degeneration of cervical spine without prolapsed disc (disorder) Associated morphology True Degenerative abnormality Inferred relationship Some 1
Chorea co-occurrent and due to Wilson disease (disorder) Associated morphology True Degenerative abnormality Inferred relationship Some 5
Chorea co-occurrent and due to Wilson disease (disorder) Associated morphology True Degenerative abnormality Inferred relationship Some 2
Chorea co-occurrent and due to Wilson disease (disorder) Associated morphology True Degenerative abnormality Inferred relationship Some 1
X-linked hereditary spastic paraplegia (disorder) Associated morphology False Degenerative abnormality Inferred relationship Some 2
Autonomic nervous system disorder co-occurrent and due to neurodegenerative disorder (disorder) Associated morphology True Degenerative abnormality Inferred relationship Some 3
Epilepsy co-occurrent and due to degenerative brain disorder (disorder) Associated morphology True Degenerative abnormality Inferred relationship Some 1
A rare, complex type of hereditary spastic paraplegia characterized by early-onset progressive spastic paraplegia presenting in infancy, associated with optic atrophy, fixation nystagmus, polyneuropathy occurring in late childhood/early adolescence leading to severe motor disability and progressive joint contractures and scoliosis. Associated morphology True Degenerative abnormality Inferred relationship Some 1
An adult-onset movement disorder characterized by bradykinesia, dysarthria and muscle rigidity. Associated morphology True Degenerative abnormality Inferred relationship Some 1
Familial Scheuermann disease (disorder) Associated morphology True Degenerative abnormality Inferred relationship Some 1
Autosomal recessive spastic paraplegia type 32 (SPG32) is a rare, complex type of hereditary spastic paraplegia characterized by a slowly progressive spastic paraplegia (with walking difficulties appearing at onset at 6-7 years of age) associated with mild intellectual disability. Brain imaging reveals thin corpus callosum, cortical and cerebellar atrophy, and pontine dysraphia. The SPG32 phenotype has been mapped to a locus on chromosome 14q12-q21. Associated morphology True Degenerative abnormality Inferred relationship Some 1
Autosomal recessive spastic paraplegia type 26 (SPG26) is a rare, complex type of hereditary spastic paraplegia characterized by the onset in childhood/adolescence (ages 2-19) of progressive spastic paraplegia associated mainly with mild to moderate cognitive impairment and developmental delay, cerebellar ataxia, dysarthria, and peripheral neuropathy. Less commonly reported manifestations include skeletal abnormalities (i.e. pes cavus, scoliosis), dyskinesia, dystonia, cataracts, cerebellar signs (i.e. saccadic dysfunction, nystagmus, dysmetria), bladder disturbances, and behavioral problems. SPG26 is caused by mutations in the B4GALNT1 gene (12q13.3), encoding Beta-1, 4 N-acetylgalactosaminyltransferase 1. Associated morphology True Degenerative abnormality Inferred relationship Some 1
Autosomal recessive spastic paraplegia type 23 (SPG23) is a rare, complex type of hereditary spastic paraplegia that presents in childhood with progressive spastic paraplegia, associated with peripheral neuropathy, skin pigment abnormalities (i.e. vitiligo, hyperpigmentation, diffuse lentigines), premature graying of hair, and characteristic facies (i.e. thin with sharp features). The SPG23 phenotype has been mapped to a locus on chromosome 1q24-q32. Associated morphology True Degenerative abnormality Inferred relationship Some 1
Autosomal recessive spastic paraplegia type 64 is an extremely rare and complex form of hereditary spastic paraplegia, reported in only 4 patients from 2 families to date, characterized by spastic paraplegia (presenting between the ages of 1 to 4 years with abnormal gait) associated with microcephaly, amyotrophy, cerebellar signs (e.g. dysarthria) aggressiveness, delayed puberty and mild to moderate intellectual disability. SPG64 is due to mutations in the ENTPD1 gene (10q24.1), encoding ectonucleoside triphosphate diphosphohydrolase 1. Associated morphology True Degenerative abnormality Inferred relationship Some 1
Autosomal recessive spastic paraplegia type 63 (SPG63) is an extremely rare and complex form of hereditary spastic paraplegia characterized by an onset in infancy of spastic paraplegia (presenting with delayed walking and a scissors gait) associated with short stature, and normal cognition. Periventricular deep white matter changes in the corpus callosum are noted on brain imaging. SPG63 is caused by a homozygous mutation in the AMPD2 gene (1p13.3) encoding AMP deaminase 2. Associated morphology True Degenerative abnormality Inferred relationship Some 1
Autosomal recessive spastic paraplegia type 61 (SPG61) is a rare, complex form of hereditary spastic paraplegia characterized by an onset in infancy of spastic paraplegia (presenting with the inability to walk unsupported and a scissors gait) associated with a motor and sensory polyneuropathy with loss of terminal digits and acropathy. SPG61 is due to a mutation in the ARL6IP1 gene (16p12-p11.2) encoding the ADP-ribosylation factor-like protein 6-interacting protein 1. Associated morphology True Degenerative abnormality Inferred relationship Some 1
Spastic paraplegia-Paget disease of bone syndrome is an extremely rare, complex form of hereditary spastic paraplegia characterized by a slowly progressive spastic paraplegia (with increased muscle tone, decreased strength in the anterior tibial muscles and hyperreflexia in the lower extremities with Babinski sign) presenting in adulthood, associated with Paget disease of the bone. Cognitive decline, dementia and myopathic changes at muscle biopsy have not been reported. Associated morphology False Degenerative abnormality Inferred relationship Some 1

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