TaoMedAI/RareMedData huggingface dataset:
Spinocerebellar ataxia type 38 (ORPHA:423296)
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.
Spinocerebellar ataxia type 4 (ORPHA:98765)
Spinocerebellar ataxia type 4 (SCA4) is a very rare progressive and untreatable subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term) characterized by ataxia with sensory neuropathy.
Epidemiology
Prevalence is unknown.
Clinical description
SCA4 typically starts in middle-aged adults and presents with cerebellar ataxia, pyramidal signs, and peripheral sensory loss.
Etiology
The disease has been linked to chromosome 16q22.1 in kindreds from Utah (USA) and Germany but the mutation is yet unknown and does not appear to involve trinucleotide repeats.
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 40 (ORPHA:423275)
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.
Spinocerebellar ataxia type 41 (ORPHA:458798)
Spinocerebellar ataxia type 41 is a rare autosomal dominant cerebellar ataxia type III disorder characterized by adult-onset progressive imbalance and loss of coordination associated with an ataxic gait. Mild atrophy of the cerebellar vermis has been reported on brain magnetic resonance imaging.
Spinocerebellar ataxia type 42 (ORPHA:458803)
A rare, autosomal dominant cerebellar ataxia characterized by pure and slowly progressive cerebellar signs combining gait instability, dysarthria, nystagmus, saccadic eye movements and diplopia. Less frequent clinical signs and symptoms include spasticity, hyperreflexia, decreased distal vibration sense, urinary urgency or incontinence and postural tremor.
Spinocerebellar ataxia type 43 (ORPHA:497764)
Spinocerebellar ataxia type 43 is a rare autosomal dominant cerebellar ataxia type I disorder characterized by late adult-onset of slowly progressive cerebellar ataxia, typically presenting with balance and gait disturbances, in association with axonal peripheral neuropathy resulting in reduced/absent deep tendon reflexes and sensory impairment. Lower limb pain and amyotrophy may be present, as well as various cerebellar signs, including dysarthria, nystagmus, hypometric saccades and tremor.
Spinocerebellar ataxia type 45 (ORPHA:589527)
A rare autosomal dominant cerebellar ataxia characterized by slowly progressive late-onset gait and limb ataxia, dysarthria, and variable nystagmus. Brain imaging reveals cerebellar atrophy.
Spinocerebellar ataxia type 46 (ORPHA:589522)
A rare autosomal dominant cerebellar ataxia characterized by slowly progressive late-onset cerebellar ataxia, variably combined with sensory axonal neuropathy. Patients may present gait and limb ataxia, dysarthria, abnormal oculomotor function, and distal sensory impairment. Cerebellar atrophy is typically mild or absent.
Spinocerebellar ataxia type 5 (ORPHA:98766)
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.
Epidemiology
Spinocerebellar ataxia type 5 (SCA5) prevalence is unknown. Five families (American, French, German, and Japanese) with SCA5 have been reported to date.
Clinical description
The mean age of onset is 33 years but it can range from 6 years to 68 years. SCA5 patients clinically present with cerebellar signs (ataxia, dysarthria, tremor), intention tremor, and eye movement abnormalities such as gaze-evoked nystagmus, down beat nystagmus, and impaired smooth pursuit. Occasionally defects of the visual field and horizontal gaze palsy can be also present. Non-cerebellar signs such as facial myokimia, resting tremor, writer's cramp, impaired vibration sense, dysphagia, and brisk deep tendon reflexes have been reported in some patients. SCA5 progresses very slowly with a disease duration of more than 30 years after symptom onset.
Etiology
SCA5 is caused by mutations in the SPTBN2 gene (11q13.2) encoding beta-III spectrin, a protein essential for the correct functioning and development of Purkinje cells.
Diagnostic methods
Diagnosis is based on the characteristic clinical findings and molecular genetic testing. As the manifestations of SCA5 are not specific, diagnosis is only confirmed with the finding of a mutation in the SPTBN2 gene.
Differential diagnosis
Differential diagnosis includes other types of ADCA (Autosomal dominant cerebellar ataxia).
Antenatal diagnosis
Antenatal diagnosis is possible in families with a known mutation.
Genetic counseling
The disease is a rare autosomal dominant spinocerebellar ataxia. 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 SCA5 and treatment is supportive. Physical therapy, as well as the use of canes and walkers, should be offered in order to maximize strength and maintain activity. Wheelchairs are eventually necessary. Speech therapy and communication devices may be useful to those with dysarthria. Dysphagia should be monitored to decrease the risk of aspiration pneumonia. Annual neurological examinations are recommended to monitor disease progression.
Prognosis
Disease progression is slow, but precise prognosis is unknown.

                            Last update: 
                            February 2020


                            - Expert reviewer(s): 
                            Dr Shinsuke FUJIOKA  - Dr Yoshio TSUBOI  - Dr Zbigniew WSZOLEK
Spinocerebellar ataxia type 8 (ORPHA:98760)
Spinocerebellar ataxia type 8 (SCA8) is a subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term) characterized by cerebellar ataxia and cognitive dysfunction in almost three quarters of patients and pyramidal and sensory signs in approximately a third of patients.
Epidemiology
Prevalence is unknown. However, SCA8 accounts for approximately 3% of ADCA cases.
Clinical description
Other features include dysexecutive disorders and commonly psychiatric disorders.
Etiology
SCA8 is caused by a trinucleotide repeat on 13q21 that produces a polyglutamine expansion in the ataxin 8 gene (ATXN8). SCA8 is thought to result from RNA-mediated neurotoxicity.
Prognosis
Prognosis is relatively good. Disease usually progresses slowly over decades. Life expectancy is not significantly reduced.

                            Last update: 
                            May 2011


                            - Expert reviewer(s): 
                            Dr Shinsuke FUJIOKA  - Dr Nathaniel WHALEY  - Dr Zbigniew WSZOLEK
Spinocerebellar ataxia with axonal neuropathy type 1 (ORPHA:94124)
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, stepagge 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.
Spinocerebellar ataxia with epilepsy (ORPHA:254881)
A rare, mitochondrial DNA maintenance syndrome characterized by cerebellar ataxia, sensory peripheral neuropathy, myoclonus, epilepsy, progressive cognitive impairment, late-onset ptosis and external ophthalmoplegia. Liver failure may also occur, most often in association with the use of antiepileptic drug sodium valproate.
Spinocerebellar ataxia-dysmorphism syndrome (ORPHA:1185)
A rare hereditary ataxia characterized by unusual facies (i. e. gross, rough and abundant hair, mild palpebral ptosis, thick lips, and down-curved corners of the mouth), dysarthria, delayed psychomotor development, scoliosis, foot deformities, and ataxia. There have been no further descriptions in the literature since 1985.
Spinocerebellar degeneration-corneal dystrophy syndrome (ORPHA:3177)
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.
Spirillary rat-bite fever (ORPHA:99903)
Spirillary rat-bite fever (RBF), also known as Sodoku (Japanese for so: rat and doku: poison), is caused by the Gram-negative bacillus Spirillum minus and is transmitted to humans through the bites and scratches of rats. The disease is mostly present in Asia.
Epidemiology
The exact incidence is unknown.
Clinical description
The bite is often small and heals quickly. However, after an incubation period of around 14 to 18 days, an inflammation appears at the site of the bite that becomes painful, indurated, edematous and may ulcerate. The inflammation is followed by fever, vomiting and chills and is associated with local lymphadenopathy. In 50% of the cases, a macular rash develops and in rare cases, swollen, red, and painful joints can appear. Occasionally, diarrhea, vomiting, neuralgias and complications, such as endo- and myocarditis, hepatitis and meningitis, can occur.
Etiology
Spirillum minus is present in the saliva of rats and is only transmitted through bites and scratches. A few cases of transmission by other animals (monkeys, mice) have been reported.
Diagnostic methods
Without a noticeable bite, diagnosis is based solely on detection of the germ. However, this is difficult due to its poor growth on culture media.
Differential diagnosis
The differential diagnosis includes streptobacillary RBF and Haverhill fever (see these terms) and several bacterial and viral infections (Lyme disease, leptospirosis, brucellosis, Rocky Mountain spotted fever, malaria, typhoid fever (see these terms), S. pyogenes and S. pyogenes-associated diseases, S. aureus infection, disseminated gonorrhea, meningococcemia, viral exanthems, secondary syphilis, Epstein-Barr virus, and coxsackieviruses).
Management and treatment
Management requires a prophylactic (avoiding direct or indirect contact with host-animals) and therapeutic approach (local treatment and antimicrobial therapy). Treatment of this form of rat-bite fever is primarily based on penicillin G administration as little is known about the susceptibility of this germ to other antibiotics.
Prognosis
Without treatment, symptoms disappear within 3-4 days but regular relapses can occur 3-10 days later. The initial lesion can become necrotic and can desquamate. The relapses can go on for a year but normally the symptoms disappear within two months. If left untreated, RBF carries a mortality rate of 6.5% due to complications.

                            Last update: 
                            August 2009


                            - Expert reviewer(s): 
                            Dr François TREMOLIERES
Splenic diffuse red pulp small B-cell lymphoma (ORPHA:300869)
Splenic diffuse red pulp small B-cell lymphoma is a rare, indolent B-cell non-Hodgkin lymphoma characterized by abnormal proliferation of small, monomorphous, basophilic B-lymphocytes, with villous cytoplasm, in the splenic red pulp, bone marrow and peripheral blood. It typically presents in the late clinical stages with splenomegaly and moderate lymphocytosis. Cytopenias are rare and likely associated with hypersplenism.
Splenic marginal zone lymphoma (ORPHA:86854)
Splenic marginal zone lymphoma is a rare, indolent B-cell non-Hodgkin lymphoma characterized by abnormal clonal proliferation of mature B-lymphocytes with involvement in the spleen, bone marrow and, frequently, the blood. It usually presents with splenomegaly, lymphocytosis, anemia and/or thrombocytopenia. Hepatitis C virus and autoimmune manifestations, such as autoimmune hemolytic anemia and autoimmune thrombocytopenia, could be associated.
Splenogonadal fusion-limb defects-micrognathia syndrome (ORPHA:2063)
A rare dysostosis syndrome characterized by abnormal fusion of the spleen with the gonad (or more rarely with remnants of the mesonephros), limb abnormalities (consisting of amelia or severe reduction defects leading to upper and/or lower rudimentary limbs) and orofacial abnormalities such as cleft palate, bifid uvula, microglossia and mandibular hypoplasia. It could also be associated with other malformations such as cryptorchidism, anal stenosis/atresia, hypoplastic lungs and cardiac malformations.
Split cord malformation type I (ORPHA:1671)
A rare subtype of split cord malformation characterized by each hemicord contained in its own dural sac, typically with a intervening bony septum.
Split cord malformation type II (ORPHA:573253)
A rare subtype of split cord malformation characterized by both hemicords included in the same single dural sac. An intradural intervening mesenchymal septum may be present.
Split cord malformation (ORPHA:573278)
A rare malformation characterized by localized longitudinal division of the spinal cord into two "hemicords". Vertebro-costal anomalies are commonly associated. Classic overlying skin stigmata is a focal hypertrichosis/hairy patch. Split cord malformations may be associated with other dysraphic anomalies (eg: filum lipoma).
Split hand-split foot-deafness syndrome (ORPHA:71271)
Split hand - split foot - deafness is an extremely rare genetic syndrome reported in a few families to date and characterized clinically by split hand/split foot malformation (SHFM; see this term) and mild to moderate sensorineural hearing loss, sometimes associated with cleft palate and intellectual deficit.
Split-foot malformation-mesoaxial polydactyly syndrome (ORPHA:488232)
A rare genetic syndrome with limb malformations as a major feature characterized by unilateral or bilateral split-foot malformation, nail abnormalities of the hand, and bilateral sensorineural hearing impairment. Mesoaxial polydactyly of the foot has also been described.
SPONASTRIME dysplasia (ORPHA:93357)
A rare, genetic, spondyloepimetaphyseal dysplasia disease characterized by short-limbed short stature (more pronounced in lower limbs) associated with characterisitic facial dysmorphism (i.e. relative macrocephaly, frontal bossing, midface hypoplasia, depressed nasal root, small upturned nose, prognathism) and abnormal radiological findings, which include abnormal vertebral bodies (particularly in the lumbar region), striated metaphyses, generalized mild osteoporosis, and delayed ossification of the carpal bones. Progressive coxa vara, short dental roots, hypogammaglobulinemia and cataracts may be occasionally associated.
Spondylo-megaepiphyseal-metaphyseal dysplasia (ORPHA:228387)
A rare, genetic primary bone displasia characterized by disproportionate short stature with short, stiff neck and trunk and relatively long limbs, fingers and toes (which may present flexion contractures), severe vertebral body ossification delay (with frequent pycnodysostosis), markedly enlarged round epiphyses of the long bones, absent ossification of pubic bones and multiple pseudoepiphyses of the short tubular bones in hands and feet. Neurological manifestations resulting from cervical spine instability may be observed.
Spondylo-ocular syndrome (ORPHA:85194)
Spondylo-ocular syndrome is a very rare association of spinal and ocular manifestations that is characterized by dense cataracts, and retinal detachment along with generalized osteoporosis and platyspondyly. Mild craniofacial dysphormism has been reported including short neck, large head and prominent eyebrows.
Spondylocamptodactyly syndrome (ORPHA:3180)
A rare spondylodysplastic syndrome characterized by camptodactyly, cervical platyspondyly, and variable degrees of thoracic scoliosis. There have been no further descriptions in the literature since 1995.
Spondylocarpotarsal synostosis (ORPHA:3275)
A spondylodysplasic dysplasia clinically characterized by postnatal progressive vertebral fusions frequently manifesting as block vertebrae, contributing to an shortened trunk and hence disproportionate short stature, scoliosis, lordosis, carpal and tarsal synostosis and infrequently, club feet.
Epidemiology
Spondylocarpotarsal synostosis (SCT) is very rare. To date, less than 40 cases have been reported in the medical literature.
Clinical description
While the clinical onset is postnatal, the diagnosis becomes clinically evident in early in childhood. Primary clinical characteristics of SCT syndrome include progressive vertebral fusions manifesting as block vertebrae leading to a shortened trunk resulting in disproportionate short stature that becomes apparent with physical growth. Scoliosis, lordosis, carpal and tarsal synostosis are frequent with club feet being observed in a minority of cases. A mild facial dysmorphism with a round face with frontal bossing and anteverted nostrils can be evident. Midline cleft palate, conductive hearing loss, joint laxity and dental enamel hypoplasia are uncommonly reported.
Etiology
SCT syndrome is due to biallelic mutations in FLNB (localized to 3p14.3) that encodes cytoskeletal protein filamin B. A very similar condition is caused by either monoallelic or biallelic mutations in MYH3.
Diagnostic methods
Diagnosis is confirmed by skeletal x-rays and genetic testing. Radiographs demonstrate progressive vertebral fusions and lumbar spine, carpal and tarsal synostosis without rib anomalies. Occasionally, delayed ossification of epiphyses and bilateral epiphyseal femur dysplasia are reported.
Differential diagnosis
Differential diagnosis may include isolated Klippel-Feil syndrome and other vertebral dysplasias, such as autosomal dominant spondylocostal dysplasia and multiple synostoses syndrome.
Genetic counseling
SCT syndrome follows an autosomal recessive inheritance (FLNB, MYH3) or occasionally autosomal dominant inheritance (MYH3). Genetic counseling should be proposed to at risk couples informing them that there is 25% (autosomal recessive) or 50% (autosomal dominant) risk of tranmitting the disease to offspring.
Management and treatment
Management involves ophthalmologic, audiologic and spine assessments. Scoliosis is treated medically; no effective surgical intervention has been described. The cervical spine should be evaluated for features of instability prior to general anesthesia. Pain management is indispensable as patients suffer from much continuing physical pain due to the spinal deformities and fused block vertebrae.
Prognosis
It has not been formally evaluated if SCT syndrome affects life expectancy.

                            Last update: 
                            November 2019


                            - Expert reviewer(s): 
                            Pr Stephen ROBERTSON  - Dr Emma WADE
Spondylodysplastic Ehlers-Danlos syndrome (ORPHA:536471)
A rare connective tissue disorder for which three subtypes exist, either related to the gene B4GALT7, B3GALT6 or SLC39A13, and for which the clinically overlapping characteristics include short stature (progressive in childhood), small joint hypermobility, skin hyperextensibility with soft, doughy skin especially on the hands and feet muscular hypotonia (ranging from congenitally severe to mild with later_onset), skeletal anomalies and, more variably, osteopenia, delayed motor development and bowing of the limbs. Gene-specific features, with variable presentation, are additionally observed in each subtype.
Spondyloenchondrodysplasia (ORPHA:1855)
Spondyloenchondrodysplasia (SPENCD) is a very rare genetic skeletal dysplasia characterized clinically by skeletal anomalies (short stature, platyspondyly, short broad ilia) and enchondromas in the long bones or pelvis. SPENCD may have a heterogeneous clinical spectrum with neurological involvement (spasticity, mental retardation and cerebral calcifications) or autoimmune manifestations, such as immune thrombocytopenic purpura, systemic lupus erythematosus (see these terms) hemolytic anemia and thyroiditis.
Spondyloepimetaphyseal dysplasia congenita, Strudwick type (ORPHA:93346)
Spondyloepimetaphyseal dysplasia congenita, Strudwick type is characterized by disproportionate short stature from birth (with a very short trunk and shortened limbs) and skeletal abnormalities (lordosis, scoliosis, flattened vertebrae, pectus carinatum, coxa vara, clubfoot, and abnormal epiphyses or metaphyses).
Epidemiology
The syndrome has been described in less than 30 patients so far.
Clinical description
Cleft palate and eye abnormalities (severe myopia and retinal detachment) are frequently associated. Arthritis may develop early in life.
Etiology
This condition is caused by mutations in the COL2A1 gene (12q13.11-q13.2).
Genetic counseling
It is inherited in an autosomal dominant manner.

                            Last update: 
                            September 2009
Spondyloepimetaphyseal dysplasia with joint laxity, leptodactylic type (ORPHA:93360)
Spondyloepimetaphyseal dysplasia with multiple dislocations is a rare genetic primary bone dysplasia disorder characterized by midface hypoplasia, short stature, generalized joint laxity, multiple joint dislocations (most frequently of knees and hips), limb malalignment (genu valgum/varum) and progressive spinal deformity (e.g. kyphosis/scoliosis). Radiography reveals distinctive slender metacarpals and metatarsals, as well as small, irregular epiphyses, metaphyseal irregularities with vertical striations, constricted femoral necks and mild platyspondyly, among others.
Spondyloepimetaphyseal dysplasia, aggrecan type (ORPHA:171866)
Spondyloepimetaphyseal dysplasia, aggrecan type is a new form of skeletal dysplasia characterized by severe short stature, facial dysmorphism and characteristic radiographic findings.
Epidemiology
To date, three cases have been described, all originating from the same family.
Clinical description
Facial features include midface hypoplasia with almost absent nasal cartilage, and relative prognathism and macrocephaly. Radiographic findings include irregular epiphyses of long bones with widened metaphyses, platyspondyly, multiple cervical-vertebral clefts and brachydactyly.
Etiology
The disease results from a missense mutation affecting the C-type lectin domain of aggrecan (AGC1 gene; chromosome 15) which regulates endochondral ossification. Transmission is autosomal-recessive.

                            Last update: 
                            October 2009
Spondyloepimetaphyseal dysplasia, Geneviève type (ORPHA:168454)
Spondyloepimetaphyseal dysplasia, Geneviève type is a rare primary bone dysplasia characterized by severe developmental delay and skeletal dysplasia (including short stature, premature carpal ossification, platyspondyly, longitudinal metaphyseal striations, and small epiphyses), as well as moderate to severe intellectual disability and facial dysmorphism, including prominent forehead, mild synophrys, depressed nasal bridge, prominent bulbous nasal tip and full lips.