TaoMedAI/RareMedData huggingface dataset:
Spina bifida-hypospadias syndrome (ORPHA:3176)
Spina bifida-hypospadias syndrome is a rare developmental defect during embryogenesis disorder characterized by the specific association of glandular hypospadias and lumbo-sacral spina bifida. Affected individuals may or may not present additional congenital anomalies, such as hydrocephaly, microstomia, patent ductus arteriosus, cryptorchidism, intestinal malrotation, rocker-bottom feet, and hypertrichosis.
Spinal atrophy-ophthalmoplegia-pyramidal syndrome (ORPHA:1217)
Spinal atrophy-ophthalmoplegia-pyramidal syndrome is a rare, bulbospinal muscular atrophy characterized by generalized neonatal hypotonia, progressive pontobulbar and spinal palsy, pyramidal signs, and deafness. External ophthalmoplegia and bilateral mydriasis are typical signs. There have been no further descriptions in the literature since 1994.
Spinal dysraphism with a posterior meningocele (ORPHA:268744)
A rare spinal dysraphism characterized by the presence of a posteriorly located sac containing cerebrospinal fluid.
Spinal muscular atrophy with respiratory distress type 1 (ORPHA:98920)
Spinal muscular atrophy with respiratory distress type 1 is a rare genetic motor neuron disease characterized by severe respiratory distress/respiratory failure in association with diaphragmatic eventration and palsy, as well as progressive, symmetrical, distal-to-proximal muscle weakness and atrophy (in lower limbs especially). Patients typically have a history of intrauterine growth retardation, low birth weight, feeble cry, weak suck and failure to thrive and present with inspiratory stridor, recurrent episodes of dyspnea or apnea, cyanosis and absent deep tendon reflexes. Kyphosis/scoliosis, foot deformities and joint contractures are frequently associated features.
Spinal muscular atrophy with respiratory distress type 2 (ORPHA:404521)
Spinal muscular atrophy with respiratory distress type 2 is a rare, genetic, motor neuron disease characterized by progressive early respiratory failure associated with diaphragm paralysis, distal muscular weakness, joint contractures, and axial hypotonia with preserved antigravity limb movements. Phenotype overlaps considerably with SMARD type 1 but is differentiated by a mutation in a different gene.
Spinal muscular atrophy-Dandy-Walker malformation-cataracts syndrome (ORPHA:73245)
A rare neurologic disease characterized by bilateral cataract, Dandy-Walker malformation, and childhood onset of distal spinal muscular atrophy. Patients present with progressively deteriorating symmetrical distal muscle weakness and atrophy of the lower limbs (and, to a much lesser degree, also the upper limbs) and decreased tendon reflexes in the lower and upper limbs.
Spinal muscular atrophy-progressive myoclonic epilepsy syndrome (ORPHA:2590)
Spinal muscular atrophy-progressive myoclonic epilepsy syndrome is characterized by hereditary myoclonus and progressive distal muscular atrophy. Less than 10 cases have been reported. Treatment with clonazepam results in complete and lasting improvement of the myoclonus.
Spindle cell hemangioma (ORPHA:210584)
Spindle cell hemangioma (SCH), also known as spindle cell hemangioendothelioma, is a rare benign vascular tumor either solitary or multiple, characterized by cavernous blood vessels separated by spindle cells reminiscent of those in Kaposis sarcoma and located in the dermis and subcutis.
Spinocerebellar ataxia type 1 (ORPHA:98755)
Spinocerebellar ataxia type 1 (SCA1) is a subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term) characterized by dysarthria, writing difficulties, limb ataxia, and commonly nystagmus and saccadic abnormalities.
Epidemiology
Prevalence is estimated to be 1-2 in 100,000 with significant geographical and ethnic variations.
Clinical description
The disease typically presents in the 4th decade (age range = 4-74 years). Ataxia gradually progresses and additional features may emerge including proprioceptive loss, hypoactive reflexes, ophthalmoparesis, and mild optic neuropathy. Initial presentation with blepharospasm, oromandibular dystonia, and retrocollis preceding ataxia has been reported. Cognition is relatively spared early on; however, executive dysfunction and impaired verbal memory may develop in later stages.
Etiology
SCA1 is caused by CAG repeat expansions in the ATXN1 gene region on chromosome 6p23.
Prognosis
Prognosis is poor. In the late stages of the disease, usually 10 to 15 years following onset, bulbar dysfunction secondary to affection of lower medullary nuclei results in aspiration which is life-threatening.

                            Last update: 
                            May 2011


                            - Expert reviewer(s): 
                            Dr Shinsuke FUJIOKA  - Dr Nathaniel WHALEY  - Dr Zbigniew WSZOLEK
Spinocerebellar ataxia type 10 (ORPHA:98761)
Spinocerebellar ataxia type 10 (SCA10) is a subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term). It is characterized by slowly progressive cerebellar syndrome and epilepsy, sometimes mild pyramidal signs, peripheral neuropathy and neuropsychological disturbances.
Epidemiology
Prevalence is unknown. Many kindreds have been found in Mexican and Brazilian populations. SCA10 is the second most common inherited ataxia in these two countries.
Clinical description
Age of onset ranges from 18 to 45 years (mean age = 32.2 years). The most common type of epilepsy is generalized motor seizures, but partial motor or partial complex seizures can occur.
Etiology
SCA10 is caused by an ATTCT pentanucleotide repeat expansion in intron 9 of the ATXN10 gene (22q13). Exact pathogenesis has not been determined but RNA processing may be involved.
Prognosis
Prognosis is poor, especially for patients with refractory epilepsy. Exact disease duration is unknown. However, the mean disease duration can be estimated to be about 13 years.

                            Last update: 
                            May 2011


                            - Expert reviewer(s): 
                            Dr Shinsuke FUJIOKA  - Dr Nathaniel WHALEY  - Dr Zbigniew WSZOLEK
Spinocerebellar ataxia type 11 (ORPHA:98767)
A rare neurologic disease that is characterized by the early-onset of cerebellar signs, eye movement abnormalities and pyramidal signs.
Epidemiology
Spinocerebellar ataxia type 11 (SCA11) prevalence is unknown but SCA11 is thought to account for 2% of ADCA type III cases. More than sixty clinically affected members from six families (of British, Pakistani, Danish, Chinese, German and French descent) have been reported to date.
Clinical description
SCA11 presents between the ages of 11-70 years with a mean age of onset of 25 years. It presents with the cerebellar signs such as dysarthria and progressive ataxia, eventually leading to difficulty walking and loss of balance as well as eye movement abnormalities (jerky pursuit, horizontal and vertical nystagmus and ophthalmoplegia). Pyramidal signs such as hyperreflexia mainly in the lower limbs, with positive Babinski sign are occasionally present. Rarely, dystonia and peripheral neuropathy have been reported. The disease is slowly progressive with dysphagia occurring later in the disease course. Patients usually become wheelchair bound 16 years after the onset of disease symptoms.
Etiology
SCA11 is due to mutations in the tau tubulin kinase 2 TTBK2 gene (15q15.2). This gene encodes TTBK2, which is found throughout the brain, and that is essential in stabilizing Purkinje cells and phosphorylating tau protein.
Diagnostic methods
Diagnosis is based on the clinical findings of pure cerebellar ataxia as well as molecular findings. Head magnetic resonance imaging (MRI) usually demonstrates the presence of cerebellar atrophy and is helpful in excluding other causes of ataxia. Molecular genetic testing identifies a mutation in the TTBK2  gene, confirming a diagnosis of SCA11.
Differential diagnosis
Differential diagnoses include other forms of ADCA type III, in particular SCA5, SCA6, SCA26, SCA30 and SCA31.
Antenatal diagnosis
Antenatal diagnosis is possible in families with a known disease causing mutation.
Genetic counseling
SCA11 is inherited autosomal dominantly and genetic counseling is possible. The disease shows full penetrance. Genetic counseling should be proposed to individuals having the disease-causing mutation informing them that there is 50% risk of passing the mutation to offspring.
Management and treatment
There is no cure for SCA11 and treatment is supportive. Language and speech therapy can help patients with dysarthria. Physiotherapy and the use of canes, walkers and wheelchairs can help patients remain mobile. Consultation with an ophthalmologist is recommended and prism glasses can help those with nystagmus. Neurological follow-up is recommended to monitor the progression of ataxia.
Prognosis
The prognosis is fair since the disease progresses very slowly (with disease duration of up to 20 years) and usually does not decrease life expectancy. Quality of life, however, is greatly affected.

                            Last update: 
                            December 2019


                            - Expert reviewer(s): 
                            Dr Shinsuke FUJIOKA  - Dr Yoshio TSUBOI  - Dr Zbigniew WSZOLEK
Spinocerebellar ataxia type 12 (ORPHA:98762)
Spinocerebellar ataxia type 12 (SCA12) is a very rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term). 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.
Epidemiology
Prevalence is unknown. Approximately 40 families have been reported.
Clinical description
The age of symptomatic onset ranges from 8 to 55 years with most patients presenting in the 4th decade.
Etiology
Like SCA8 the pathogenesis of SCA12 seems to be related to a toxic effect at the RNA level as it is caused by a CAG expansion at the 5' end of the PPP2R2B gene on chromosome 5q31-5q32.
Prognosis
Prognosis is essentially good. In many cases progression of the illness is slow and in general life expectancy is not affected.

                            Last update: 
                            May 2011


                            - Expert reviewer(s): 
                            Dr Shinsuke FUJIOKA  - Dr Nathaniel WHALEY  - Dr Zbigniew WSZOLEK
Spinocerebellar ataxia type 13 (ORPHA:98768)
Spinocerebellar ataxia type 13 (SCA13) is a very rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term). It is characterized by onset in childhood marked by delayed motor and cognitive development followed by mild progression of cerebellar ataxia.
Epidemiology
Prevalence is unknown. Fewer than 20 cases have been reported to date.
Clinical description
SCA13 is primarily a cerebellar syndrome, but dysphagia, urinary urgency, and bradykinesia have been described in affected patients older than 50.
Etiology
Etiology SCA13 has been mapped to chromosome 19q13.3-q13.4 and is known to be associated with two missense mutations in the KCNC3 gene.
Prognosis
Prognosis is relatively good. Many patients live beyond 70 years of age.

                            Last update: 
                            May 2011


                            - Expert reviewer(s): 
                            Dr Shinsuke FUJIOKA  - Dr Nathaniel WHALEY  - Dr Zbigniew WSZOLEK
Spinocerebellar ataxia type 14 (ORPHA:98763)
Spinocerebellar ataxia type 14 (SCA14) is a rare mild subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term). It is characterized by slowly progressive ataxia, dysarthria and nystagmus.
Epidemiology
The disease has been reported in more than twenty families from Europe, the United States, and Australia.
Clinical description
Onset is usually in early adulthood while symptomatic disease onset may be from 10 to 70 years (mean = 33.9 years). In addition to cerebellar signs, hyperreflexia and decreased vibration sense are frequently observed. Some patients have cognitive impairment, parkinsonism characterized by rigidity, as well as focal dystonia, axial myoclonus, facial myokymia, choreic movement of hands and epilepsy.
Etiology
SCA14 is caused by missense mutations in the PRKCG gene (19q13.4) encoding protein kinase C gamma (PKC-gamma).
Prognosis
Prognosis is good. Some patients need supportive devices such as a cane or wheelchair for gait impairment. However, several affected patients have lived beyond 80 years of age.

                            Last update: 
                            May 2011


                            - Expert reviewer(s): 
                            Dr Shinsuke FUJIOKA  - Dr Nathaniel WHALEY  - Dr Zbigniew WSZOLEK
Spinocerebellar ataxia type 15/16 (ORPHA:98769)
Spinocerebellar ataxia type 15/16 (SCA15/16) is a rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term). It is characterized by cerebellar ataxia, tremor and cognitive impairment.
Epidemiology
Prevalence is unknown. Fewer than 80 patients affected by the disease have been identified to date.
Clinical description
Age of onset is from 20 to 66 years (mean age = 39.6 years).
Etiology
Genetic testing has shown that patients originally classified under SCA15 and SCA16 have the same subtype caused by a deletion in the inositol 1,4,5-triphosphate receptor 1 ITPR1 gene (3p26.1).
Prognosis
Prognosis is generally good and life-shortening events do not usually occur. Some patients live beyond 80 years of age.

                            Last update: 
                            May 2011


                            - Expert reviewer(s): 
                            Dr Shinsuke FUJIOKA  - Dr Nathaniel WHALEY  - Dr Zbigniew WSZOLEK
Spinocerebellar ataxia type 17 (ORPHA:98759)
Spinocerebellar ataxia type 17 (SCA17) is a rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term). It is characterized by a variable clinical picture which can include dementia, psychiatric disorders, parkinsonism, dystonia, chorea, spasticity, and epilepsy.
Epidemiology
Worldwide prevalence is unknown. Local prevalence is 0.47 per 1,000,000 in the Japanese population and 0.16 per 100,000 in North-East England. Fewer than 100 families have been reported to date.
Clinical description
Clinical features overlap with many neurodegenerative syndromes and specifically, Huntington disease (see this term).
Etiology
SCA17 is caused by a CAG repeat expansion in the TATA box-binding protein gene TBP (6q27).
Prognosis
Prognosis is poor. More than 60% of patients present with dysphagia which frequently results in aspiration and death. Mean disease duration is less than 18 years and a few patients live beyond 60 years of age.

                            Last update: 
                            May 2011


                            - Expert reviewer(s): 
                            Dr Shinsuke FUJIOKA  - Dr Nathaniel WHALEY  - Dr Zbigniew WSZOLEK
Spinocerebellar ataxia type 18 (ORPHA:98771)
Spinocerebellar ataxia type 18 (SCA18) is a very rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term). It is characterized by sensory neuropathy and cerebellar ataxia.
Epidemiology
Prevalence is unknown. Only 26 cases in a 5-generation American family of Irish ancestry have been reported to date.
Clinical description
Onset is in the 2nd and 3rd decades of life with symptomatic onset ranging from 13 to 27 years. Patients initially present with axonal sensory neuropathy, while cerebellar ataxia and motor neuron dysfunction develop later.
Etiology
SCA18 has been linked to chromosome 7q22-q23 but the responsible gene mutation has not yet been identified.
Differential diagnosis
Both SCA3 and SCA4 are also associated with a peripheral neuropathy and should be taken into account in the differential diagnosis.
Prognosis
Prognosis is unclear. However, mean disease duration from age at onset of illness to age at last examination is about 24 years in the reported cases.

                            Last update: 
                            May 2011


                            - Expert reviewer(s): 
                            Dr Shinsuke FUJIOKA  - Dr Nathaniel WHALEY  - Dr Zbigniew WSZOLEK
Spinocerebellar ataxia type 19/22 (ORPHA:98772)
Spinocerebellar ataxia type 19 (SCA19) is a very rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term). It is characterized by mild cerebellar ataxia, cognitive impairment, low scores on the Wisconsin Card Sorting Test measuring executive function, myoclonus, and postural tremor.
Epidemiology
Prevalence is unknown. Only 12 cases in a 5-generation Dutch family have been reported to date.
Clinical description
SCA19 presents in the 3rd decade of life with symptomatic disease onset ranging from 10 to 46 years. Onset symptoms of SCA22 (see this term) overlap significantly with those of SCA19 but with a more narrow age range of 35 to 46 years.
Etiology
Linkage to locus 1p21-q21 has been proposed but the gene mutation has not been identified.
Prognosis
Prognosis is good. SCA19 does not impact life expectancy to any major extent, and some patients live to over 80 years of age.

                            Last update: 
                            May 2011


                            - Expert reviewer(s): 
                            Dr Shinsuke FUJIOKA  - Dr Nathaniel WHALEY  - Dr Zbigniew WSZOLEK
Spinocerebellar ataxia type 2 (ORPHA:98756)
Spinocerebellar ataxia type 2 (SCA2) is a subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term) characterized by truncal ataxia, dysarthria, slowed saccades and less commonly ophthalmoparesis and chorea.
Epidemiology
Prevalence is estimated to be 1-2 in 100,000 with significant geographical and ethnic variations.
Clinical description
SCA2 presents in the 3rd or 4th decade (average age = 30 years; age range = 2-65 years). Parkinsonism is also a less common but well-documented manifestation. There is no distinct clinical feature that reliably distinguishes SCA2 from SCA1 although tremor and autonomic dysfunction are more common in SCA2. Disease course is similar in both SCA1 and SCA2 (see this term).
Etiology
The disease is caused by mutations in the ataxin 2 gene ATXN2 (12q23-q24.1). The normal CAG repeat length is 15-24; repeats 35 and longer are associated with the clinical manifestations of SCA2.
Prognosis
Prognosis is relatively good in most cases. Cases with disease duration of longer than 20 years have been described. However, in some cases, especially those with younger age of symptomatic disease onset (under 20 years), progression may be rapid.

                            Last update: 
                            May 2011


                            - Expert reviewer(s): 
                            Dr Shinsuke FUJIOKA  - Dr Nathaniel WHALEY  - Dr Zbigniew WSZOLEK
Spinocerebellar ataxia type 20 (ORPHA:101110)
Spinocerebellar ataxia type 20 (SCA20) is a very rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term). It is characterized by cerebellar dysarthria as the initial typical manifestation.
Epidemiology
Prevalence is unknown. Fewer than 20 cases in a 4-generation Australian family of Anglo-Celtic descent have been reported to date.
Clinical description
Age of symptomatic disease onset ranges from 19 to 64 years (mean age = 46.5 years). Most affected patients also exhibit palatal tremor and spasmodic dysphonia. Head computed tomography (CT) shows dentate calcifications.
Etiology
SCA20 has been linked to chromosome 11q12.2-11q12.3, overlapping with the locus for SCA5 (see this term), though clinical features differ. SCA5 belongs to type III ADCA (see this term) and represents a pure ataxia syndrome with on average earlier age of symptomatic disease onset ranging from 14 to 50 years. Since the causative gene is unknown, SCA20 and SCA5 may be proven genetically to be the same disorder.
Prognosis
Prognosis is relatively good. Most patients can walk with or without gait aids and many patients live to more than 60 years of age.

                            Last update: 
                            May 2011


                            - Expert reviewer(s): 
                            Dr Shinsuke FUJIOKA  - Dr Nathaniel WHALEY  - Dr Zbigniew WSZOLEK
Spinocerebellar ataxia type 21 (ORPHA:98773)
Spinocerebellar ataxia type 21 (SCA21) is a very rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term). It is characterized by slowly progressive cerebellar ataxia, mild cognitive impairment, postural and/or resting tremor, bradykinesia, and rigidity.
Epidemiology
Prevalence is unknown. Fewer than 20 cases in a 4-generation French family have been reported to date.
Clinical description
Mean age of onset is 17.4 years and is relatively early compared to most type I ADCAs. Individuals in successive generations tend to have earlier ages of onset. Parkinsonism was not responsive to L-dopa and magnetic resonance imaging (MRI) revealed cerebellar and brainstem atrophy.
Etiology
SCA21 maps to chromosome 7p21.3-p15.1 but the gene and gene mutation have not been identified.
Prognosis
There is insufficient clinical data to draw conclusions concerning prognosis.

                            Last update: 
                            May 2011


                            - Expert reviewer(s): 
                            Dr Shinsuke FUJIOKA  - Dr Nathaniel WHALEY  - Dr Zbigniew WSZOLEK
Spinocerebellar ataxia type 23 (ORPHA:101108)
Spinocerebellar ataxia type 23 (SCA23) is a very rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term). It is characterized by gait ataxia, dysarthria, slowed saccades, ocular dysmetria, Babinski sign and hyperreflexia.
Epidemiology
This subtype has only been described in 4 Dutch families. Age of onset is from 43 to 56 years.
Clinical description
The clinical features, head magnetic resonance imaging (MRI), and neuropathological findings are indistinguishable from other SCA subtypes.
Etiology
SCA23 maps to chromosome region 20p12.3-p13 and missense mutations in the prodynorphin PDYN gene appear to cause the disease.
Prognosis
Prognosis may be good in some cases. Disease progression can be slow. Wheelchair dependence can occur more than 20 years after symptomatic disease onset.

                            Last update: 
                            May 2011


                            - Expert reviewer(s): 
                            Dr Shinsuke FUJIOKA  - Dr Nathaniel WHALEY  - Dr Zbigniew WSZOLEK
Spinocerebellar ataxia type 25 (ORPHA:101111)
Spinocerebellar ataxia type 25 (SCA25) is a very rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term). It is characterized by cerebellar ataxia and prominent sensory neuropathy.
Epidemiology
Fewer than 10 cases in a 4-generation French family have been reported to date.
Clinical description
Age of onset ranges from 1 to 39 years. The clinical features vary widely from sensory neuropathy with little cerebellar ataxia to cerebellar ataxia with little sensory neuropathy. Some patients exhibit gastrointestinal (GI) disorders such as vomiting and abdominal pain as initial symptoms. GI problems can persist. Scoliosis and urinary problems (nycturia or urinary urgency) are also observed. Head magnetic resonance imaging (MRI) shows severe global cerebellar atrophy like in SCA5 and SCA6 (see these terms).
Etiology
SCA25 maps to chromosome 2p15-p21. Repeat expansion detection failed to identify CAG repeat expansion.
Prognosis
There is insufficient clinical data to draw conclusions concerning prognosis.

                            Last update: 
                            May 2011


                            - Expert reviewer(s): 
                            Dr Shinsuke FUJIOKA  - Dr Nathaniel WHALEY  - Dr Zbigniew WSZOLEK