Dysarthria

Symptom Information:

Symptom ID: HPO:0001260
Synonyms:
Dysarthric speech [HPO:0001260]
Dysarthria (finding) [Orphanet:43490]
Dysarthria [Orphanet:43490]
Dysarthria [OMIM:Dysarthria]
Dysarthric speech [OMIM:Dysarthric speech]
Elocution disorders/dysarthria/dysphonia [Orphanet:43490]
Dysarthria [MedDRA:10013887]
Inarticulateness [MedDRA:10013887]
Slurred speech [MedDRA:10013887]
Speech slurred [MedDRA:10013887]
Articulation problem [MedDRA:10013887]
Dysarthria (1 patient) [OMIM:Dysarthria (1 patient)]
Dysarthria (74%) [OMIM:Dysarthria (74%)]
Dysarthria (less common) [OMIM:Dysarthria (less common)]
Dysarthria (mild) [OMIM:Dysarthria (mild)]
Dysarthria (most common presenting symptom) [OMIM:Dysarthria (most common presenting symptom)]
Dysarthria (onset in third decade) [OMIM:Dysarthria (onset in third decade)]
Slurred speech (type I) [OMIM:Slurred speech (type I)]
Communication disorder [Orphanet:43490]
Communications disorders [MedDRA:10010119]
Communication disorder [MedDRA:10061046]
Quality:
Cross references:
Orphanet:43490 "Elocution disorders/dysarthria/dysphonia" [Orphanet:43490]
OMIM: "Dysarthria" [OMIM:Dysarthria]
OMIM: "Dysarthric speech" [OMIM:Dysarthric speech]
OMIM: "Dysarthria (1 patient)" [OMIM:Dysarthria (1 patient)]
OMIM: "Dysarthria (74%)" [OMIM:Dysarthria (74%)]
OMIM: "Dysarthria (less common)" [OMIM:Dysarthria (less common)]
OMIM: "Dysarthria (mild)" [OMIM:Dysarthria (mild)]
OMIM: "Dysarthria (most common presenting symptom)" [OMIM:Dysarthria (most common presenting symptom)]
OMIM: "Dysarthria (onset in third decade)" [OMIM:Dysarthria (onset in third decade)]
OMIM: "Slurred speech (type I)" [OMIM:Slurred speech (type I)]
UMLS:C0013362 "Dysarthria" [HPO:0001260]
UMLS:C0013362 "Dysarthria" [Orphanet:43490]
Is a (Direct Parents):
MedDRA Communication disorders and disturbances
Orphanet Functional anomalies of the nervous system
MedDRA Speech articulation and rhythm disturbances
HPO         Neurological speech impairment
Is a (Whole tree): HPO:
All(HPO:0000001)
    Phenotypic abnormality(HPO:0000118)
       Abnormality of the nervous system(HPO:0000707)
          Abnormality of nervous system physiology(HPO:0012638)
             Abnormality of higher mental function(HPO:0011446)
                Neurological speech impairment(HPO:0002167)
                   Dysarthria(HPO:0001260)
MedDRA:
Database Frequency: 329 / 7739
Resource:

All diseases associated with this symptom:

3-methylglutaconic aciduria type 1 (Orphanet:67046)
3-methylglutaconic aciduria type 3 (Orphanet:67047)
48,XXYY syndrome (Orphanet:10)
ACHALASIA-ADDISONIANISM-ALACRIMA SYNDROME (OMIM:231550)
ALZHEIMER DISEASE 3 (OMIM:607822)
AMYOTROPHIC LATERAL SCLEROSIS 10 WITH OR WITHOUT FRONTOTEMPORAL DEMENTIA (OMIM:612069)
AMYOTROPHIC LATERAL SCLEROSIS 12 (OMIM:613435)
AMYOTROPHIC LATERAL SCLEROSIS 14 WITH OR WITHOUT FRONTOTEMPORAL DEMENTIA (OMIM:613954)
AMYOTROPHIC LATERAL SCLEROSIS 15 WITH OR WITHOUT FRONTOTEMPORAL DEMENTIA (OMIM:300857)
AMYOTROPHIC LATERAL SCLEROSIS 17 (OMIM:614696)
AMYOTROPHIC LATERAL SCLEROSIS 18 (OMIM:614808)
AMYOTROPHIC LATERAL SCLEROSIS 5 (OMIM:602099)
AMYOTROPHIC LATERAL SCLEROSIS 8 (OMIM:608627)
ANGIOMATOSIS, DIFFUSE CORTICOMENINGEAL, OF DIVRY AND VAN BOGAERT (OMIM:206570)
ATAXIA, SPASTIC, CHILDHOOD-ONSET, AUTOSOMAL RECESSIVE, WITH OPTICATROPHY AND MENTAL RETARDATION (OMIM:270500)
ATAXIA-OCULOMOTOR APRAXIA 3 (OMIM:615217)
ATAXIA-TELANGIECTASIA (OMIM:208900)
ATAXIA-TELANGIECTASIA-LIKE DISORDER 2 (OMIM:615919)
ATTRV122I amyloidosis (Orphanet:85451)
Aceruloplasminemia (Orphanet:48818)
Action myoclonus - renal failure syndrome (Orphanet:163696)
Adult-onset autosomal recessive cerebellar ataxia (Orphanet:284289)
Adult-onset dystonia-parkinsonism (Orphanet:199351)
Aicardi-Goutières syndrome (Orphanet:51)
Allan-Herndon-Dudley syndrome (Orphanet:59)
Alpha-mannosidosis (Orphanet:61)
Arnold-Chiari malformation type I (Orphanet:268882)
Ataxia - oculomotor apraxia type 1 (Orphanet:1168)
Ataxia-telangiectasia (Orphanet:100)
Ataxia-telangiectasia-like disorder (Orphanet:251347)
Atypical Gaucher disease due to saposin C deficiency (Orphanet:309252)
Autosomal dominant limb-girdle muscular dystrophy type 1A (Orphanet:266)
Autosomal dominant progressive external ophthalmoplegia (Orphanet:254892)
Autosomal dominant spastic ataxia 1 (Orphanet:251282)
Autosomal dominant spastic paraplegia type 31 (Orphanet:101011)
Autosomal dominant spastic paraplegia type 4 (Orphanet:100985)
Autosomal dominant spastic paraplegia type 6 (Orphanet:100988)
Autosomal dominant spastic paraplegia type 9 (Orphanet:100990)
Autosomal dominant striatal neurodegeneration (Orphanet:228169)
Autosomal recessive ataxia, Beauce type (Orphanet:88644)
Autosomal recessive centronuclear myopathy (Orphanet:169186)
Autosomal recessive cerebellar ataxia - epilepsy - intellectual deficit (Orphanet:284282)
Autosomal recessive cerebellar ataxia - psychomotor retardation (Orphanet:284271)
Autosomal recessive cerebellar ataxia - saccadic intrusion (Orphanet:95434)
Autosomal recessive cerebellar ataxia-pyramidal signs-nystagmus-oculomotor apraxia syndrome (Orphanet:363429)
Autosomal recessive cerebelloparenchymal disorder type 3 (Orphanet:1170)
Autosomal recessive congenital cerebellar ataxia due to MGLUR1 deficiency (Orphanet:324262)
Autosomal recessive progressive external ophthalmoplegia (Orphanet:254886)
Autosomal recessive spastic ataxia - optic atrophy - dysarthria (Orphanet:254343)
Autosomal recessive spastic ataxia of Charlevoix-Saguenay (Orphanet:98)
Autosomal recessive spastic ataxia with leukoencephalopathy (Orphanet:314603)
Autosomal recessive spastic paraplegia type 11 (Orphanet:2822)
Autosomal recessive spastic paraplegia type 15 (Orphanet:100996)
Autosomal recessive spastic paraplegia type 20 (Orphanet:101000)
Autosomal recessive spastic paraplegia type 21 (Orphanet:101001)
Autosomal recessive spastic paraplegia type 26 (Orphanet:101006)
Autosomal recessive spastic paraplegia type 27 (Orphanet:101007)
Autosomal recessive spastic paraplegia type 35 (Orphanet:171629)
Autosomal recessive spastic paraplegia type 43 (Orphanet:320370)
Autosomal recessive spastic paraplegia type 44 (Orphanet:320401)
Autosomal recessive spastic paraplegia type 45 (Orphanet:320396)
Autosomal recessive spastic paraplegia type 46 (Orphanet:320391)
Autosomal recessive spastic paraplegia type 49 (Orphanet:320385)
Autosomal recessive spastic paraplegia type 54 (Orphanet:320380)
Autosomal recessive spastic paraplegia type 5A (Orphanet:100986)
Autosomal recessive spastic paraplegia type 7 (Orphanet:99013)
BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 1 (OMIM:213600)
BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 5 (OMIM:615483)
BASAL GANGLIA CALCIFICATION, IDIOPATHIC, CHILDHOOD-ONSET (OMIM:114100)
Benign familial chorea (Orphanet:1429)
Beta-mannosidosis (Orphanet:118)
Bilateral generalized polymicrogyria (Orphanet:208447)
Bilateral perisylvian polymicrogyria (Orphanet:98889)
Bilateral striopallidodentate calcinosis (Orphanet:1980)
Biotin-responsive basal ganglia disease (Orphanet:65284)
Brain-lung-thyroid syndrome (Orphanet:209905)
CACH syndrome (Orphanet:135)
CADASIL (Orphanet:136)
CARASIL (Orphanet:199354)
CATARACT, ATAXIA, SHORT STATURE, AND MENTAL RETARDATION (OMIM:300619)
CEREBELLAR ATAXIA, AREFLEXIA, PES CAVUS, OPTIC ATROPHY, AND SENSORINEURALHEARING LOSS (OMIM:601338)
CEREBELLAR ATAXIA, MENTAL RETARDATION, AND DYSEQUILIBRIUM SYNDROME1 (OMIM:224050)
CEREBELLAR ATAXIA, MENTAL RETARDATION, AND DYSEQUILIBRIUM SYNDROME2 (OMIM:610185)
CEREBELLAR ATAXIA, MENTAL RETARDATION, AND DYSEQUILIBRIUM SYNDROME3 (OMIM:613227)
CEREBELLAR ATAXIA, MENTAL RETARDATION, AND DYSEQUILIBRIUM SYNDROME4 (OMIM:615268)
CEREBELLAR ATAXIA, NEUROPATHY, AND VESTIBULAR AREFLEXIA SYNDROME (OMIM:614575)
CEREBELLOPARENCHYMAL DISORDER II (OMIM:213100)
CEREBRAL PALSY, ATAXIC, AUTOSOMAL RECESSIVE (OMIM:605388)
CHARCOT-MARIE-TOOTH PERONEAL MUSCULAR ATROPHY AND FRIEDREICH ATAXIA,COMBINED (OMIM:302900)
CLN13 disease (Orphanet:352709)
CLN3 disease (Orphanet:228346)
CLN5 disease (Orphanet:228360)
CLN9 disease (Orphanet:228357)
COCKAYNE SYNDROME A (OMIM:216400)
COGNITIVE IMPAIRMENT WITH OR WITHOUT CEREBELLAR ATAXIA (OMIM:614306)
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 24 (OMIM:616239)
Carbamoylphosphate synthetase deficiency (Orphanet:147)
Cerebellar ataxia - hypogonadism (Orphanet:1173)
Cerebellar ataxia, Cayman type (Orphanet:94122)
Cerebroretinal vasculopathy (Orphanet:3421)
Childhood-onset autosomal recessive slowly progressive spinocerebellar ataxia (Orphanet:284324)
Choreoacanthocytosis (Orphanet:2388)
Chronic intestinal pseudo-obstruction (Orphanet:2978)
Cirrhosis-dystonia-polycythemia-hypermanganesemia syndrome (Orphanet:309854)
Citrullinemia type II (Orphanet:247585)
Classical progressive supranuclear palsy (Orphanet:240071)
Coats plus syndrome (Orphanet:313838)
Combined oxidative phosphorylation defect type 15 (Orphanet:319524)
Combined oxidative phosphorylation defect type 7 (Orphanet:254930)
Congenital or early infantile CACH syndrome (Orphanet:157713)
Costello syndrome (Orphanet:3071)
Cree leukoencephalopathy (Orphanet:99854)
Cystinuria (Orphanet:214)
DYSTONIA 1, TORSION, AUTOSOMAL DOMINANT (OMIM:128100)
DYSTONIA 17, TORSION, AUTOSOMAL RECESSIVE (OMIM:612406)
DYSTONIA WITH CEREBELLAR ATROPHY (OMIM:611694)
Distal myopathy with vocal cord weakness (Orphanet:600)
Dopa-responsive dystonia due to sepiapterin reductase deficiency (Orphanet:70594)
Dysequilibrium syndrome (Orphanet:1766)
Dystonia 16 (Orphanet:210571)
ENCEPHALOPATHY, RECURRENT, OF CHILDHOOD (OMIM:130950)
EPILEPSY, PROGRESSIVE MYOCLONIC, 1B (OMIM:612437)
EPILEPSY, PROGRESSIVE MYOCLONIC, 5 (OMIM:613832)
Early-onset X-linked optic atrophy (Orphanet:98890)
Early-onset generalized limb-onset dystonia (Orphanet:256)
Early-onset parkinsonism - intellectual deficit (Orphanet:2379)
Early-onset spastic ataxia-neuropathy syndrome (Orphanet:313772)
Encephalopathy due to GLUT1 deficiency (Orphanet:71277)
Episodic ataxia type 1 (Orphanet:37612)
Episodic ataxia type 5 (Orphanet:211067)
Episodic ataxia type 7 (Orphanet:209970)
Erythrokeratodermia - ataxia (Orphanet:1955)
FRIEDREICH ATAXIA AND CONGENITAL GLAUCOMA (OMIM:229310)
FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 1 (OMIM:105550)
FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 2 (OMIM:615911)
Familial amyloid polyneuropathy (Orphanet:85447)
Familial dyskinesia and facial myokymia (Orphanet:324588)
Familial encephalopathy with neuroserpin inclusion bodies (Orphanet:85110)
Familial paroxysmal ataxia (Orphanet:97)
Fatal familial insomnia (Orphanet:466)
Fragile X-associated tremor/ataxia syndrome (Orphanet:93256)
Friedreich ataxia (Orphanet:95)
Friedreich ataxia 1 (OMIM:229300)
Friedreich ataxia 2 (OMIM:601992)
Frontotemporal dementia with motor neuron disease (Orphanet:275872)
GORDON HOLMES SYNDROME (OMIM:212840)
Gerstmann-Straussler-Scheinker syndrome (Orphanet:356)
Giant axonal neuropathy (Orphanet:643)
Glutathione synthetase deficiency with 5-oxoprolinuria (Orphanet:289846)
Glycogen storage disease due to acid maltase deficiency, late-onset (Orphanet:420429)
HERNS syndrome (Orphanet:63261)
HYPOPREBETALIPOPROTEINEMIA, ACANTHOCYTOSIS, RETINITIS PIGMENTOSA,AND PALLIDAL DEGENERATION (OMIM:607236)
Hereditary continuous muscle fiber activity (Orphanet:972)
Hereditary vascular retinopathy (Orphanet:71291)
Huntington disease-like 1 (Orphanet:157941)
Huntington disease-like 2 (Orphanet:98934)
Hypomyelination - congenital cataract (Orphanet:85163)
Hypomyelination with atrophy of basal ganglia and cerebellum (Orphanet:139441)
IMMUNODEFICIENCY 23 (OMIM:615816)
Ichthyosis - hepatosplenomegaly - cerebellar degeneration (Orphanet:2274)
Infantile-onset ascending hereditary spastic paralysis (Orphanet:293168)
Intellectual deficit, X-linked, Snyder type (Orphanet:3063)
Juvenile or adult CACH syndrome (Orphanet:157719)
Juvenile parkinsonism with intellectual deficit due to DNAJC6 deficiency (Orphanet:352497)
Kennedy disease (Orphanet:481)
LEBER OPTIC ATROPHY AND DYSTONIA (OMIM:500001)
LESCH-NYHAN SYNDROME (OMIM:300322)
LEUKODYSTROPHY, HYPOMYELINATING, 8, WITH OR WITHOUT OLIGODONTIA AND/ORHYPOGONADOTROPIC HYPOGONADISM (OMIM:614381)
LEUKODYSTROPHY, HYPOMYELINATING, 9 (OMIM:616140)
LEUKOENCEPHALOPATHY, BRAIN CALCIFICATIONS, AND CYSTS (OMIM:614561)
LEUKOENCEPHALOPATHY, PROGRESSIVE, WITH OVARIAN FAILURE (OMIM:615889)
LICHTENSTEIN-KNORR SYNDROME (OMIM:616291)
Late infantile CACH syndrome (Orphanet:157716)
Leber plus disease (Orphanet:99718)
Leigh syndrome (Orphanet:506)
Lesch-Nyhan syndrome (Orphanet:510)
Leukoencephalopathy - ataxia - hypodontia - hypomyelination (Orphanet:137639)
Leukoencephalopathy with brain stem and spinal cord involvement - lactate elevation (Orphanet:137898)
Lissencephaly type 1 due to doublecortin gene mutation (Orphanet:2148)
MEGALENCEPHALIC LEUKOENCEPHALOPATHY WITH SUBCORTICAL CYSTS 2A (OMIM:613925)
MELAS (Orphanet:550)
MENTAL RETARDATION, AUTOSOMAL RECESSIVE 5 (OMIM:611091)
METACHROMATIC LEUKODYSTROPHY (OMIM:250100)
METACHROMATIC LEUKODYSTROPHY DUE TO SAPOSIN B DEFICIENCY (OMIM:249900)
MIGRAINE, FAMILIAL HEMIPLEGIC, 2 (OMIM:602481)
MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 2 (OMIM:615157)
MYASTHENIA GRAVIS (OMIM:254200)
MYASTHENIC SYNDROME, CONGENITAL, 18 (OMIM:616330)
MYASTHENIC SYNDROME, CONGENITAL, 1A, SLOW-CHANNEL (OMIM:601462)
MYASTHENIC SYNDROME, CONGENITAL, 1B, FAST-CHANNEL (OMIM:608930)
MYASTHENIC SYNDROME, CONGENITAL, 4C, ASSOCIATED WITH ACETYLCHOLINERECEPTOR DEFICIENCY (OMIM:608931)
MYOCLONIC EPILEPSY OF UNVERRICHT AND LUNDBORG (OMIM:254800)
Marinesco-Sjögren syndrome (Orphanet:559)
Maternally-inherited diabetes and deafness (Orphanet:225)
McLeod neuroacanthocytosis syndrome (Orphanet:59306)
Mitochondrial myopathy - lactic acidosis - deafness (Orphanet:2597)
Moebius syndrome (Orphanet:570)
Mohr-Tranebjaerg syndrome (Orphanet:52368)
Mulibrey nanism (Orphanet:2576)
Multiple system atrophy (Orphanet:102)
Myopathy and diabetes mellitus (Orphanet:2596)
NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 2B (OMIM:610217)
NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 6 (OMIM:615643)
NIEMANN-PICK DISEASE, TYPE C1 (OMIM:257220)
NIEMANN-PICK DISEASE, TYPE C2 (OMIM:607625)
Neurodegeneration with brain iron accumulation due to C19orf12 mutation (Orphanet:289560)
Neuroferritinopathy (Orphanet:157846)
Non-progressive cerebellar ataxia with intellectual deficit (Orphanet:314647)
OCULODENTODIGITAL DYSPLASIA (OMIM:164200)
OLIVOPONTOCEREBELLAR ATROPHY II, AUTOSOMAL RECESSIVE (OMIM:258300)
OPTIC ATROPHY WITH DEMYELINATING DISEASE OF CNS (OMIM:165200)
Oculodentodigital dysplasia (Orphanet:2710)
Oculopharyngeal muscular dystrophy (Orphanet:270)
Oculopharyngodistal myopathy (Orphanet:98897)
Odontoleukodystrophy (Orphanet:77295)
Ovarioleukodystrophy (Orphanet:99853)
PALLIDAL DEGENERATION, PROGRESSIVE, WITH RETINITIS PIGMENTOSA (OMIM:260200)
PARALYSIS AGITANS, JUVENILE, OF HUNT (OMIM:168100)
PARKINSON DISEASE 15, AUTOSOMAL RECESSIVE EARLY-ONSET (OMIM:260300)
PARKINSON DISEASE 20, EARLY-ONSET (OMIM:615530)
PARKINSON DISEASE, LATE-ONSET (OMIM:168600)
PAROXYSMAL NONKINESIGENIC DYSKINESIA 1 (OMIM:118800)
PELIZAEUS-MERZBACHER DISEASE (OMIM:312080)
PEROXISOME BIOGENESIS DISORDER 5B (OMIM:614867)
PEROXISOME BIOGENESIS DISORDER 6B (OMIM:614871)
POLYENDOCRINE-POLYNEUROPATHY SYNDROME (OMIM:616113)
PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS,AUTOSOMAL DOMINANT, 1 (OMIM:157640)
PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS,AUTOSOMAL DOMINANT, 3 (OMIM:609286)
PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS,AUTOSOMAL DOMINANT, 5 (OMIM:613077)
Pantothenate kinase-associated neurodegeneration (Orphanet:157850)
Paraplegia - brachydactyly - cone-shaped epiphysis (Orphanet:2823)
Parkinsonian-pyramidal syndrome (Orphanet:171695)
Paroxysmal dystonic choreathetosis with episodic ataxia and spasticity (Orphanet:53583)
Paroxysmal non-kinesigenic dyskinesia (Orphanet:98810)
Partington syndrome (Orphanet:94083)
Pelizaeus-Merzbacher-like due to GJC2 mutation (Orphanet:280282)
Pellagra-like skin rash-neurological manifestations (Orphanet:2837)
Perrault Syndrome (Orphanet:2855)
Perry syndrome (Orphanet:178509)
Polyarteritis nodosa, childhood-onset (OMIM:615688)
Polyneuropathy - hearing loss - ataxia - retinitis pigmentosa - cataract (Orphanet:171848)
Primary dystonia, DYT2 type (Orphanet:99657)
Primary dystonia, DYT6 type (Orphanet:98806)
Progressive myoclonic epilepsy type 3 (Orphanet:263516)
Progressive myoclonic epilepsy type 6 (Orphanet:280620)
Pyruvate carboxylase deficiency (Orphanet:3008)
Rapid-onset dystonia-parkinsonism (Orphanet:71517)
Recessive mitochondrial ataxia syndrome (Orphanet:94125)
Retinal vasculopathy and cerebral leukodystrophy (Orphanet:247691)
SPASTIC ATAXIA 2, AUTOSOMAL RECESSIVE (OMIM:611302)
SPASTIC PARAPLEGIA 47, AUTOSOMAL RECESSIVE (OMIM:614066)
SPASTIC PARAPLEGIA, ATAXIA, AND MENTAL RETARDATION (OMIM:607565)
SPINOCEREBELLAR ATAXIA 37 (OMIM:615945)
SPINOCEREBELLAR ATAXIA 38 (OMIM:615957)
SPINOCEREBELLAR ATAXIA 40 (OMIM:616053)
SPINOCEREBELLAR ATAXIA WITH RIGIDITY AND PERIPHERAL NEUROPATHY (OMIM:183050)
SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 1 (OMIM:606002)
SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 15 (OMIM:615705)
SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 16 (OMIM:615768)
SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 17 (OMIM:616127)
SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 18 (OMIM:616204)
SUPRANUCLEAR PALSY, PROGRESSIVE, 1 (OMIM:601104)
SUPRANUCLEAR PALSY, PROGRESSIVE, 2 (OMIM:609454)
Salla disease (Orphanet:309334)
Sandhoff disease (Orphanet:796)
Sandhoff disease, adult form (Orphanet:309169)
Sandhoff disease, infantile form (Orphanet:309155)
Sandhoff disease, juvenile form (Orphanet:309162)
Sanfilippo syndrome type D (Orphanet:79272)
Sensory ataxic neuropathy-dysarthria-ophthalmoparesis (Orphanet:70595)
Sialidosis type 1 (Orphanet:812)
Sneddon syndrome (Orphanet:820)
Spastic ataxia with congenital miosis (Orphanet:1182)
Spastic paraplegia - precocious puberty (Orphanet:2826)
Spastic paraplegia 64, autosomal recessive (OMIM:615683)
Spastic paraplegia type 2 (Orphanet:99015)
Spastic paraplegia-optic atrophy-neuropathy syndrome (Orphanet:320406)
Spinocerebellar ataxia - dysmorphism (Orphanet:1185)
Spinocerebellar ataxia type 1 (Orphanet:98755)
Spinocerebellar ataxia type 10 (Orphanet:98761)
Spinocerebellar ataxia type 11 (Orphanet:98767)
Spinocerebellar ataxia type 12 (Orphanet:98762)
Spinocerebellar ataxia type 13 (Orphanet:98768)
Spinocerebellar ataxia type 14 (Orphanet:98763)
Spinocerebellar ataxia type 15/16 (Orphanet:98769)
Spinocerebellar ataxia type 17 (Orphanet:98759)
Spinocerebellar ataxia type 19/22 (Orphanet:98772)
Spinocerebellar ataxia type 2 (Orphanet:98756)
Spinocerebellar ataxia type 20 (Orphanet:101110)
Spinocerebellar ataxia type 21 (Orphanet:98773)
Spinocerebellar ataxia type 23 (Orphanet:101108)
Spinocerebellar ataxia type 25 (Orphanet:101111)
Spinocerebellar ataxia type 26 (Orphanet:101112)
Spinocerebellar ataxia type 27 (Orphanet:98764)
Spinocerebellar ataxia type 28 (Orphanet:101109)
Spinocerebellar ataxia type 29 (Orphanet:208513)
Spinocerebellar ataxia type 3 (Orphanet:98757)
Spinocerebellar ataxia type 30 (Orphanet:211017)
Spinocerebellar ataxia type 31 (Orphanet:217012)
Spinocerebellar ataxia type 35 (Orphanet:276193)
Spinocerebellar ataxia type 36 (Orphanet:276198)
Spinocerebellar ataxia type 4 (Orphanet:98765)
Spinocerebellar ataxia type 5 (Orphanet:98766)
Spinocerebellar ataxia type 6 (Orphanet:98758)
Spinocerebellar ataxia type 7 (Orphanet:94147)
Spinocerebellar ataxia type 8 (Orphanet:98760)
Spinocerebellar ataxia with axonal neuropathy type 2 (Orphanet:64753)
Spinocerebellar ataxia with epilepsy (Orphanet:254881)
Sporadic Leigh syndrome (Orphanet:255199)
Synaptic congenital myasthenic syndromes (Orphanet:98915)
Syringomyelia (Orphanet:3280)
TREMOR, HEREDITARY ESSENTIAL, 1 (OMIM:190300)
Thiamine-responsive encephalopathy (Orphanet:199348)
Triple A syndrome (Orphanet:869)
Unverricht-Lundborg disease (Orphanet:308)
VISCERAL NEUROPATHY, FAMILIAL, AUTOSOMAL RECESSIVE (OMIM:243180)
Weaver syndrome (Orphanet:3447)
Wilson disease (Orphanet:905)
Wolfram syndrome (Orphanet:3463)
Wolfram syndrome 1 (OMIM:222300)
Woodhouse-Sakati syndrome (Orphanet:3464)
Worster-Drought syndrome (Orphanet:3465)
X-linked Charcot-Marie-Tooth disease type 1 (Orphanet:101075)
X-linked intellectual disability-choreoathetosis-abnormal behavior syndrome (Orphanet:85295)
X-linked non progressive cerebellar ataxia (Orphanet:314978)
X-linked progressive cerebellar ataxia (Orphanet:1175)
X-linked sideroblastic anemia - ataxia (Orphanet:2802)
Young adult-onset Parkinsonism (Orphanet:2828)
[DEL] SPASTIC PARAPLEGIA 7, AUTOSOMAL RECESSIVE (OMIM:607259)