Dysarthria, and Schizophrenia

Diseases related with Dysarthria and Schizophrenia

In the following list you will find some of the most common rare diseases related to Dysarthria and Schizophrenia that can help you solving undiagnosed cases.

Top matches:

Spinocerebellar ataxia-7 (SCA7) is an autosomal dominant neurodegenerative disorder characterized by adult onset of progressive cerebellar ataxia associated with pigmental macular dystrophy. In her classification of ataxia, Harding (1982) referred to progressive cerebellar ataxia with pigmentary macular degeneration as type II ADCA (autosomal dominant cerebellar ataxia). The age at onset, degree of severity, and rate of progression vary among and within families. Associated neurologic signs, such as ophthalmoplegia, pyramidal or extrapyramidal signs, deep sensory loss, or dementia, are also variable. Genetic anticipation is observed and is greater in paternal than in maternal transmissions (Benomar et al., 1994; summary by David et al., 1996).For a general discussion of autosomal dominant spinocerebellar ataxia, see SCA1 (OMIM ).

SPINOCEREBELLAR ATAXIA 7; SCA7 Is also known as opca iii|opca with macular degeneration and external ophthalmoplegia|adca, type ii|olivopontocerebellar atrophy iii|opca3|opca with retinal degeneration|autosomal dominant cerebellar ataxia, type ii

Related symptoms:

  • Global developmental delay
  • Generalized hypotonia
  • Ataxia
  • Nystagmus
  • Failure to thrive


SOURCES: OMIM MENDELIAN

More info about SPINOCEREBELLAR ATAXIA 7; SCA7

Frontotemporal dementia (FTD) refers to a clinical manifestation of the pathologic finding of frontotemporal lobar degeneration (FTLD). FTD, the most common subtype of FTLD, is a behavioral variant characterized by changes in social and personal conduct with loss of volition, executive dysfunction, loss of abstract thought, and decreased speech output. A second clinical subtype of FTLD is 'semantic dementia,' characterized by specific loss of comprehension of language and impaired facial and object recognition. A third clinical subtype of FTLD is 'primary progressive aphasia' (PPA), characterized by a reduction in speech production, speech errors, and word retrieval difficulties resulting in mutism and an inability to communicate. All subtypes have relative preservation of memory, at least in the early stages. FTLD is often associated with parkinsonism or motor neuron disease (MND) resembling amyotrophic lateral sclerosis (ALS ) (reviews by Tolnay and Probst, 2002 and Mackenzie and Rademakers, 2007). {30,31:Mackenzie et al. (2009, 2010)} provided a classification of FTLD subtypes according to the neuropathologic findings (see PATHOGENESIS below). Clinical Variability of TauopathiesTauopathies comprise a clinically variable group of neurodegenerative diseases characterized neuropathologically by accumulation of abnormal MAPT-positive inclusions in nerve and/or glial cells. In addition to frontotemporal dementia, semantic dementia, and PPA, different clinical syndromes with overlapping features have been described, leading to confusion in the terminology (Tolnay and Probst, 2002). Other terms used historically include parkinsonism and dementia with pallidopontonigral degeneration (PPND) (Wszolek et al., 1992); disinhibition-dementia-parkinsonism-amyotrophy complex (DDPAC) (Lynch et al., 1994); frontotemporal dementia with parkinsonism (FLDEM) (Yamaoka et al., 1996); and multiple system tauopathy with presenile dementia (MSTD) (Spillantini et al., 1997). These disorders are characterized by variable degrees of frontal lobe dementia, parkinsonism, motor neuron disease, and amyotrophy.Other neurodegenerative associated with mutations in the MAPT gene include Pick disease (OMIM ) and progressive supranuclear palsy (PSP ),Inherited neurodegenerative tauopathies linked to chromosome 17 and caused by mutation in the MAPT gene have also been collectively termed 'FTDP17' (Lee et al., 2001).Kertesz (2003) suggested the term 'Pick complex' to represent the overlapping syndromes of FTD, primary progressive aphasia (PPA), corticobasal degeneration (CBD), PSP, and FTD with motor neuron disease. He noted that frontotemporal dementia may also be referred to as 'clinical Pick disease' and that the term 'Pick disease' should be restricted to the pathologic finding of Pick bodies. Genetic Heterogeneity of Frontotemporal Lobar DegenerationMutations in several different genes can cause frontotemporal dementia and frontotemporal lobar degeneration, with or without motor neuron disease. See FTLD with TDP43 inclusions (OMIM ), caused by mutation in the GRN gene (OMIM ) on chromosome 17q21; FTLD mapping to chromosome 3 (OMIM ), caused by mutation in the CHMP2B gene (OMIM ); inclusion body myopathy with Paget disease and FTD (IBMPFD ), caused by mutation in the VCP gene (OMIM ) on chromosome 9p13; ALS6 (OMIM ), caused by mutation in the FUS gene (OMIM ) on 16p11; ALS10 (OMIM ), caused by mutation in the TARDBP gene (OMIM ) on 1p36; and FTDALS (OMIM ), caused by mutation in the C9ORF72 gene (OMIM ) on 9p.In 1 family with FTD, a mutation was identified in the presenilin-1 gene (PSEN1 ) on chromosome 14, which is usually associated with a familial form of early-onset Alzheimer disease (AD3 ).

FRONTOTEMPORAL DEMENTIA; FTD Is also known as mstd|frontotemporal dementia with parkinsonism|ftld with tau inclusions|ddpac|ftdp17|wilhelmsen-lynch disease|pallidopontonigral degeneration|frontotemporal lobar degeneration with tau inclusions|frontotemporal lobe dementia|disinhibition-dementia-parkins

Related symptoms:

  • Hyperreflexia
  • Dysarthria
  • Skeletal muscle atrophy
  • Tremor
  • Dysphagia


SOURCES: OMIM ORPHANET MENDELIAN

More info about FRONTOTEMPORAL DEMENTIA; FTD

Neuroferritinopathy is a late-onset type of neurodegeneration with brain iron accumulation (NBIA; see this term) characterized by progressive chorea or dystonia and subtle cognitive deficits.

NEUROFERRITINOPATHY Is also known as neuroferritinopathy|ferritin-related neurodegeneration|hereditary ferritinopathy|adult basal ganglia disease|basal ganglia disease, adult-onset

Related symptoms:

  • Intellectual disability
  • Seizures
  • Generalized hypotonia
  • Ataxia
  • Spasticity


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about NEUROFERRITINOPATHY

Other less relevant matches:

MYOPATHY AND DIABETES MELLITUS Is also known as mitochondrial myopathy, lipid type

Related symptoms:

  • Intellectual disability
  • Generalized hypotonia
  • Ataxia
  • Muscle weakness
  • Muscular hypotonia


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about MYOPATHY AND DIABETES MELLITUS

METACHROMATIC LEUKODYSTROPHY, ADULT FORM Is also known as arylsulfatase a deficiency, adult form|mld, adult form

Related symptoms:

  • Seizures
  • Generalized hypotonia
  • Muscle weakness
  • Spasticity
  • Dysarthria


SOURCES: ORPHANET MENDELIAN

More info about METACHROMATIC LEUKODYSTROPHY, ADULT FORM

Juvenile Huntington disease (JHD) is a form of Huntington disease (HD; see this term), characterized by onset of signs and symptoms before 20 years of age.

JUVENILE HUNTINGTON DISEASE Is also known as huntington chorea|jhd|juvenile huntington chorea

Related symptoms:

  • Seizures
  • Ataxia
  • Cognitive impairment
  • Anemia
  • Delayed speech and language development


SOURCES: OMIM ORPHANET MENDELIAN

More info about JUVENILE HUNTINGTON DISEASE

The metachromatic leukodystrophies comprise several allelic disorders. Kihara (1982) recognized 5 allelic forms of MLD: late infantile, juvenile, and adult forms, partial cerebroside sulfate deficiency, and pseudoarylsulfatase A deficiency; and 2 nonallelic forms: metachromatic leukodystrophy due to saposin B deficiency (OMIM ) and multiple sulfatase deficiency or juvenile sulfatidosis (OMIM ), a disorder that combines features of a mucopolysaccharidosis with those of metachromatic leukodystrophy.

METACHROMATIC LEUKODYSTROPHY, LATE INFANTILE FORM Is also known as sulfatide lipidosis|arsa deficiency|mld, late infantile form|arylsulfatase a deficiency|cerebroside sulfatase deficiency|metachromatic leukoencephalopathy|arylsulfatase a deficiency, late infantile form|cerebral sclerosis, diffuse, metachromatic form

Related symptoms:

  • Intellectual disability
  • Seizures
  • Generalized hypotonia
  • Ataxia
  • Muscle weakness


SOURCES: ORPHANET OMIM MENDELIAN

More info about METACHROMATIC LEUKODYSTROPHY, LATE INFANTILE FORM

Bilateral striopallidodentate calcinosis (BSPDC, also erroneously called Fahr disease) is characterized by the accumulation of calcium deposits in different brain regions, particularly the basal ganglia and dentate nucleus, and is often associated with neurodegeneration.

BILATERAL STRIOPALLIDODENTATE CALCINOSIS Is also known as cerebrovascular ferrocalcinosis|primary familial brain calcification|ferrocalcinosis, cerebrovascular|pfbc|bspdc|striopallidodentate calcinosis, bilateral|cerebral calcification, nonarteriosclerotic, idiopathic, adult-onset|basal ganglia calcification, id

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Microcephaly
  • Ataxia


SOURCES: ORPHANET OMIM MENDELIAN

More info about BILATERAL STRIOPALLIDODENTATE CALCINOSIS

Niemann-Pick type C (NPC) disease is an autosomal recessive lipid storage disorder characterized by progressive neurodegeneration. Approximately 95% of cases are caused by mutations in the NPC1 gene, referred to as type C1; 5% are caused by mutations in the NPC2 gene (OMIM ), referred to as type C2 (OMIM ). The clinical manifestations of types C1 and C2 are similar because the respective genes are both involved in egress of lipids, particularly cholesterol, from late endosomes or lysosomes (summary by Vance, 2006).Historically, Crocker (1961) delineated 4 types of Niemann-Pick disease: the classic infantile form (type A; {257200}), the visceral form (type B; {607616}), the subacute or juvenile form (type C), and the Nova Scotian variant (type D). Types C1 and D are indistinguishable except for the occurrence of type D in patients of Nova Scotian Acadian ancestry. Since then, types E and F have also been described (see {607616}), and phenotypic variation within each group has also been described.

NIEMANN-PICK DISEASE, TYPE C1; NPC1 Is also known as niemann-pick disease, type c|niemann-pick disease with cholesterol esterification block|neurovisceral storage disease with vertical supranuclear ophthalmoplegia|niemann-pick disease, subacute juvenile form|npc|niemann-pick disease without sphingomyelinase

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Ataxia


SOURCES: ORPHANET OMIM MENDELIAN

More info about NIEMANN-PICK DISEASE, TYPE C1; NPC1

High match WILSON DISEASE

Wilson disease is a very rare inherited multisystemic disease presenting non-specific neurological, hepatic, psychiatric or osseo-muscular manifestations due to excessive copper deposition in the body.

WILSON DISEASE Is also known as wd|hepatolenticular degeneration|wnd

Related symptoms:

  • Intellectual disability
  • Growth delay
  • Neoplasm
  • Failure to thrive
  • Spasticity


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about WILSON DISEASE

Top 5 symptoms//phenotypes associated to Dysarthria and Schizophrenia

Symptoms // Phenotype % cases
Dementia Very Common - Between 80% and 100% cases
Dystonia Common - Between 50% and 80% cases
Ataxia Common - Between 50% and 80% cases
Chorea Common - Between 50% and 80% cases
Mental deterioration Common - Between 50% and 80% cases

Other less frequent symptoms

Patients with Dysarthria and Schizophrenia. may also develop some of the following symptoms:

Common Symptoms - More than 50% cases

Hyperreflexia

Uncommon Symptoms - Between 30% and 50% cases

Tremor

Common Symptoms - More than 50% cases

Dysphagia

Uncommon Symptoms - Between 30% and 50% cases

Generalized hypotonia

Common Symptoms - More than 50% cases

Clumsiness

Uncommon Symptoms - Between 30% and 50% cases

Rigidity

Common Symptoms - More than 50% cases

Intellectual disability

Uncommon Symptoms - Between 30% and 50% cases

Seizures

Common Symptoms - More than 50% cases

Spasticity

Uncommon Symptoms - Between 30% and 50% cases

Behavioral abnormality Neuronal loss in central nervous system Cognitive impairment Gait disturbance Personality changes Abnormal pyramidal sign Urinary incontinence Neurodegeneration Depressivity Abnormality of the cerebral white matter Developmental regression Bradykinesia Abnormality of movement Psychosis Emotional lability Progressive neurologic deterioration Difficulty walking Abnormality of extrapyramidal motor function Optic atrophy Babinski sign Hepatomegaly Loss of speech Anemia Abnormality of eye movement Confusion Parkinsonism Gliosis Brain atrophy Memory impairment Fatigue Reduced visual acuity Hyporeflexia Myoclonus Peripheral neuropathy Muscular hypotonia Muscle weakness Oral-pharyngeal dysphagia Involuntary movements Abnormal cerebellum morphology Aggressive behavior Global developmental delay Thrombocytopenia Orofacial dyskinesia Head tremor Ventriculomegaly Myopathy Retinal degeneration Dyskinesia Gait ataxia Abnormality of the nervous system

Rare Symptoms - Less than 30% cases

Type II diabetes mellitus Diabetes mellitus Slurred speech Infertility Intrauterine growth retardation Motor delay Broad-based gait Micrographia Hypertension Pain Dysphonia Abdominal distention Splenomegaly Polyneuropathy Jaundice Hepatosplenomegaly Tetraplegia Cirrhosis Unsteady gait Bruising susceptibility Ascites Choreoathetosis Frequent falls Bilateral sensorineural hearing impairment EMG: chronic denervation signs Abnormality of proteoglycan metabolism Paralysis Abnormality of the liver Punctate periventricular T2 hyperintense foci Weight loss Neurological speech impairment Arthritis Muscle stiffness Abnormal social behavior Athetosis Spastic tetraplegia Intention tremor Cholecystitis Growth delay Vegetative state Progressive gait ataxia Delusions Increased CSF protein Abnormality of visual evoked potentials Anxiety Decreased nerve conduction velocity Leukodystrophy Hallucinations Progressive peripheral neuropathy Decerebrate rigidity Progressive cerebellar ataxia Postural instability Supranuclear gaze palsy Lewy bodies Frontotemporal dementia Neurofibrillary tangles Apathy Mutism Poor speech Alcoholism Irritability Supranuclear ophthalmoplegia Bipolar affective disorder Failure to thrive Incoordination Ophthalmoplegia Dysmetria Disinhibition Language impairment Cerebral atrophy Acute hepatic failure Trismus Skin rash Generalized tonic-clonic seizures Ptosis High nonceruloplasmin-bound serum copper Sleep disturbance Nystagmus Oligohydramnios Mitral valve prolapse Acute hepatitis Intellectual disability, profound Prolonged neonatal jaundice Aplasia/Hypoplasia of the abdominal wall musculature Spastic dysarthria Blindness Foam cells Visceromegaly Vertical supranuclear gaze palsy Hypersexuality Cataplexy Bone-marrow foam cells Rapid neurologic deterioration Fetal ascites Congenital thrombocytopenia Sea-blue histiocytosis Foam cells in visceral organs and CNS Neonatal hypotonia Pneumonia Visual loss Calcinosis Corneal opacity Paraplegia Vertigo Cerebral calcification Kayser-Fleischer ring Dysdiadochokinesis Spastic paraplegia Mask-like facies Abnormality of neuronal migration Basal ganglia calcification Progressive encephalopathy Abnormal lower motor neuron morphology Mixed demyelinating and axonal polyneuropathy Abnormal cholesterol homeostasis Focal dystonia Pseudohypoparathyroidism Mood swings Subcutaneous hemorrhage Limb dysmetria Focal motor seizures Progressive choreoathetosis Pill-rolling tremor Calcification of the small brain vessels Dense calcifications in the cerebellar dentate nucleus Retinopathy Areflexia Poor motor coordination Hypocupremia Renal tubular dysfunction Hypercalciuria Nephrolithiasis Decreased liver function Bone pain Increased body weight Spontaneous abortion Aminoaciduria Nephrocalcinosis Leukopenia Leukoencephalopathy Drooling Abnormality of the hand Back pain Abnormality of mitochondrial metabolism Osteoarthritis Chondrocalcinosis Global brain atrophy Pathologic fracture Glycosuria Osteomalacia Arthropathy Abnormality of blood and blood-forming tissues Joint swelling Hepatocellular carcinoma Hypoparathyroidism Hand tremor Increased reactive oxygen species production Cholestasis Hepatitis Premature osteoarthritis Pruritus Low cholesterol esterification rates Fatal liver failure in infancy Neoplasm Edema Vomiting Osteoporosis Abnormality of the menstrual cycle Encephalopathy Retinoblastoma Arthralgia Elevated hepatic transaminase Proteinuria Nausea and vomiting Coma Paresthesia Peripheral axonal neuropathy Nausea Joint hypermobility Hepatic failure Proximal muscle weakness in lower limbs Menstrual irregularities Neoplasm of the liver Hyperphosphaturia Hemolytic anemia Hepatic steatosis Esophageal varix Constipation Onion bulb formation Progressive visual loss Proximal amyotrophy Proximal muscle weakness Myalgia Facial palsy Limb muscle weakness Sensory neuropathy Degeneration of anterior horn cells Progressive muscle weakness Type I diabetes mellitus Exercise intolerance Ragged-red muscle fibers EMG: myopathic abnormalities Mitochondrial myopathy Peripheral arterial stenosis Elevated serum creatine phosphokinase Decreased activity of mitochondrial complex IV Weakness of orbicularis oculi muscle Upper motor neuron dysfunction Senile plaques Polyphagia Bowel incontinence Aphasia Dysphasia Agitation Amyotrophic lateral sclerosis Alzheimer disease Bulbar signs Primitive reflex Stiff neck Postural tremor Limb dystonia Hypertonia Socially inappropriate behavior Hypotension Anomia Inappropriate sexual behavior Prosopagnosia Abnormal autonomic nervous system physiology Parasomnia Semantic dementia Lack of insight Spastic diplegia Orthostatic hypotension Blepharospasm Inappropriate behavior Hypomimic face Laryngeal dystonia Abnormality of the basal ganglia Writer's cramp Anarthria Subcortical dementia Frontal lobe dementia Decreased serum ferritin Akinetic mutism Cavitation of the basal ganglia Hyperorality Inappropriate laughter Perseveration Short attention span Progressive spastic quadriplegia Headache Ophthalmoparesis Testicular atrophy Paranoia Mania Abnormal involuntary eye movements Neuronal loss in basal ganglia Suicidal ideation Frequent temper tantrums Oral motor hypotonia Macular dystrophy Blurred vision Feeding difficulties in infancy Pallor Peripheral demyelination Chronic bronchitis Optic disc pallor External ophthalmoplegia Aganglionic megacolon Shock Toe walking Bulbar palsy Abnormality of metabolism/homeostasis EMG: neuropathic changes Genu recurvatum Gallbladder dysfunction Microcephaly Macular degeneration Pigmentary retinopathy Dilated fourth ventricle Upper limb undergrowth Fasciculations Cough Orthostatic hypotension due to autonomic dysfunction Progressive psychomotor deterioration Apraxia Abnormality of glycosphingolipid metabolism Neoplasm of the gallbladder Delayed speech and language development Cerebral cortical atrophy Cerebellar atrophy Hyperactivity Dilatation Skeletal muscle atrophy Spinocerebellar atrophy Limb tremor Restlessness Olivopontocerebellar atrophy Falls Generalized-onset seizure Spinocerebellar tract degeneration Slow saccadic eye movements Hyperkinesis Rheumatoid arthritis Obsessive-compulsive behavior Akinesia Hypokinesia Muscle fibrillation Bronchitis Cerebellar vermis atrophy Atypical or prolonged hepatitis


If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Ventricular septal defect and Lissencephaly, related diseases and genetic alterations