Dysarthria, and Stroke

Diseases related with Dysarthria and Stroke

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

Top matches:

Medium match DYSTONIA 16

Dystonia 16 (DYT16) is a very rare and newly discovered movement disorder which is characterized by early-onset progressive limb dystonia, laryngeal and oromandibular dystonia, and parkinsonism.

DYSTONIA 16 Is also known as dyt16|early-onset dystonia parkinsonism

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Pain
  • Cognitive impairment
  • Delayed speech and language development


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about DYSTONIA 16

Parkinson disease was first described by James Parkinson in 1817. It is the second most common neurodegenerative disorder after Alzheimer disease (AD ), affecting approximately 1% of the population over age 50 (Polymeropoulos et al., 1996). ReviewsWarner and Schapira (2003) reviewed the genetic and environmental causes of Parkinson disease. Feany (2004) reviewed the genetics of Parkinson disease and provided a speculative model of interactions among proteins implicated in PD. Lees et al. (2009) provided a review of Parkinson disease, with emphasis on diagnosis, neuropathology, and treatment. Genetic Heterogeneity of Parkinson DiseaseSeveral loci for autosomal dominant Parkinson disease have been identified, including PARK1 (OMIM ) and PARK4, caused by mutation in or triplication of the alpha-synuclein gene (SNCA ), respectively, on 4q22; PARK5 (OMIM ), caused by mutation in the UCHL1 gene on 4p13; PARK8 (OMIM ), caused by mutation in the LRRK2 gene (OMIM ) on 12q12; PARK11 (OMIM ), caused by mutation in the GIGYF2 gene (OMIM ) on 2q37; PARK13 (OMIM ), caused by mutation in the HTRA2 gene (OMIM ) on 2p13; PARK17 (OMIM ), caused by mutation in the VPS35 gene (OMIM ) on 16q11; and PARK18 (OMIM ), caused by mutation in the EIF4G1 gene (OMIM ) on 3q27.Several loci for autosomal recessive early-onset Parkinson disease have been identified: PARK2 (OMIM ), caused by mutation in the gene encoding parkin (PARK2 ) on 6q26; PARK6 (OMIM ), caused by mutation in the PINK1 gene (OMIM ) on 1p36; PARK7 (OMIM ), caused by mutation in the DJ1 gene (PARK7 ) on 1p36; PARK14 (OMIM ), caused by mutation in the PLA2G6 gene (OMIM ) on 22q13; PARK15 (OMIM ), caused by mutation in the FBXO7 gene (OMIM ) on 22q12-q13; PARK19A (OMIM ) and PARK19B (see {615528}), caused by mutation in the DNAJC6 gene (OMIM ) on 1p32; and PARK20 (OMIM ), caused by mutation in the SYNJ1 gene (OMIM ) on 21q22.PARK3 (OMIM ) has been mapped to chromosome 2p13; PARK10 (OMIM ) has been mapped to chromosome 1p34-p32; PARK16 (OMIM ) has been mapped to chromosome 1q32. See also PARK21 (OMIM ). A locus on the X chromosome has been identified (PARK12 ). There is also evidence that mitochondrial mutations may cause or contribute to Parkinson disease (see {556500}). Susceptibility to the development of the more common late-onset form of Parkinson disease has been associated with polymorphisms or mutations in several genes, including GBA (OMIM ), MAPT (OMIM ), MC1R (OMIM ), ADH1C (OMIM ), and genes at the HLA locus (see, e.g., HLA-DRA, {142860}). Each of these risk factors independently may have a modest effect on disease development, but together may have a substantial cumulative effect (Hamza et al., 2010).Susceptibility to PD may also be conferred by expanded trinucleotide repeats in several genes causing other neurologic disorders usually characterized by spinocerebellar ataxia (SCA), including the ATXN2 (OMIM ), ATXN3 (OMIM ), TBP (OMIM ), and ATXN8OS (OMIM ) genes.

PARKINSON DISEASE, LATE-ONSET; PD Is also known as park

Related symptoms:

  • Ataxia
  • Cognitive impairment
  • Dysarthria
  • Tremor
  • Dysphagia


SOURCES: OMIM MENDELIAN

More info about PARKINSON DISEASE, LATE-ONSET; PD

MIGRAINE, FAMILIAL HEMIPLEGIC, 2; FHM2 Is also known as mhp2

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Hearing impairment
  • Ataxia


SOURCES: OMIM MENDELIAN

More info about MIGRAINE, FAMILIAL HEMIPLEGIC, 2; FHM2

Other less relevant matches:

Inherited or familial Creutzfeldt-Jakob disease (fCJD) is a very rare form of genetic prion disease (see this term) characterized by typical CJD features (rapidly progressive dementia, personality/behavioral changes, psychiatric disorders, myoclonus, and ataxia) with a genetic cause and sometimes a family history of dementia.

INHERITED CREUTZFELDT-JAKOB DISEASE Is also known as inherited cjd

Related symptoms:

  • Seizures
  • Nystagmus
  • Muscle weakness
  • Tremor
  • Depressivity


SOURCES: ORPHANET MENDELIAN

More info about INHERITED CREUTZFELDT-JAKOB DISEASE

Familial thrombocytosis is a type of thrombocytosis, a sustained elevation of platelet numbers, which affects the platelet/megakaryocyte lineage and may create a tendency for thrombosis and hemorrhage but does not cause myeloproliferation.

FAMILIAL THROMBOCYTOSIS Is also known as familial thrombocythemia|hereditary thrombocythemia

Related symptoms:

  • Seizures
  • Dysarthria
  • Splenomegaly
  • Headache
  • Hyperhidrosis


SOURCES: ORPHANET MENDELIAN

More info about FAMILIAL THROMBOCYTOSIS

Vitamin B12-unresponsive methylmalonic acidemia type mut- is an inborn error of metabolism characterized by recurrent ketoacidotic comas or transient vomiting, dehydration, hypotonia and intellectual deficit, which does not respond to administration of vitamin B12.

VITAMIN B12-UNRESPONSIVE METHYLMALONIC ACIDEMIA TYPE MUT- Is also known as vitamin b12-unresponsive methylmalonic aciduria type mut-|partial deficiency of methylmalonyl-coa mutase

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Failure to thrive
  • Muscular hypotonia


SOURCES: ORPHANET MENDELIAN

More info about VITAMIN B12-UNRESPONSIVE METHYLMALONIC ACIDEMIA TYPE MUT-

Classical progressive supranuclear palsy, also known as Richardson's syndrome, is the most common clinical variant of progressive supranuclear palsy (PSP; see this term), a rare late-onset neurodegenerative disease characterized by postural instability, progressive rigidity, supranuclear gaze palsy and mild dementia.

CLASSIC PROGRESSIVE SUPRANUCLEAR PALSY SYNDROME Is also known as psp|steele-richardson-olszewski disease|steele-richardson-olszewski syndrome|classic psp syndrome|richardson syndrome

Related symptoms:

  • Seizures
  • Cognitive impairment
  • Hyperreflexia
  • Dysarthria
  • Tremor


SOURCES: OMIM ORPHANET MENDELIAN

More info about CLASSIC PROGRESSIVE SUPRANUCLEAR PALSY SYNDROME

Medium match CARASIL

CARASIL is a hereditary cerebral small vessel disease characterized by early-onset gait disturbances, premature scalp alopecia, ischemic stroke, acute mid to lower back pain and progressive cognitive disturbances leading to severe dementia.

CARASIL Is also known as cerebrovascular disease with thin skin, alopecia, and disc disease|subcortical vascular encephalopathy, progressive|maeda syndrome|cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy

Related symptoms:

  • Ataxia
  • Nystagmus
  • Pain
  • Spasticity
  • Cognitive impairment


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about CARASIL

Medium match SNEDDON SYNDROME

Sneddon's syndrome (SS) is a rare non-inflammatory thrombotic vasculopathy characterized by the combination of cerebrovascular disease with livedo racemosa.

SNEDDON SYNDROME Is also known as livedo reticularis-cerebrovascular accident syndrome|livedo racemosa-cerebrovascular accident syndrome|livedo reticularis and cerebrovascular accidents|ehrmann-sneddon syndrome

Related symptoms:

  • Seizures
  • Muscle weakness
  • Pain
  • Visual impairment
  • Motor delay


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about SNEDDON SYNDROME

Fragile X-associated tremor/ataxia syndrome (FXTAS) is a rare neurodegenerative disorder characterized by adult-onset progressive intention tremor and gait ataxia.

FRAGILE X-ASSOCIATED TREMOR/ATAXIA SYNDROME Is also known as fxtas syndrome

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Hearing impairment
  • Ataxia


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about FRAGILE X-ASSOCIATED TREMOR/ATAXIA SYNDROME

Top 5 symptoms//phenotypes associated to Dysarthria and Stroke

Symptoms // Phenotype % cases
Tremor Common - Between 50% and 80% cases
Seizures Common - Between 50% and 80% cases
Dementia Common - Between 50% and 80% cases
Bradykinesia Uncommon - Between 30% and 50% cases
Cognitive impairment Uncommon - Between 30% and 50% cases

Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases

Dysphagia Rigidity Parkinsonism Ataxia Global developmental delay Apathy Mental deterioration Nystagmus Memory impairment Intellectual disability Depressivity Pain Dystonia Gait disturbance Hyperreflexia Gait ataxia Postural instability Neuronal loss in central nervous system Abnormal autonomic nervous system physiology Personality changes Vertigo Hemiparesis Slurred speech Behavioral abnormality Babinski sign Muscle weakness Aphasia Headache Diplopia Irritability Dysmetria Confusion Retrocollis Delayed speech and language development Hypertension Abnormal pyramidal sign Postural tremor

Rare Symptoms - Less than 30% cases

Intention tremor Hemiplegia Brain atrophy Abnormality of the cerebral white matter Migraine Apraxia Urinary incontinence Myalgia Abnormal cerebellum morphology Coma Paresthesia Neurodegeneration Blurred vision Supranuclear gaze palsy Transient ischemic attack Global brain atrophy Astrocytosis Emotional lability Splenomegaly Syncope Thrombocytosis Clumsiness Abnormality of movement Chorea Progressive cerebellar ataxia Peripheral arterial stenosis Anxiety Myoclonus Cerebral ischemia Stroke-like episode Visual field defect Unsteady gait Limb dystonia Hallucinations Urinary urgency Resting tremor Hypotension Frontotemporal dementia Kinetic tremor Akinesia Mask-like facies Alzheimer disease Hearing impairment Photophobia Motor delay Developmental regression Visual impairment Nephropathy Paralysis Facial palsy Abnormality of extrapyramidal motor function Tetraparesis Spastic gait Leukoencephalopathy Back pain Diffuse leukoencephalopathy Gaze-evoked nystagmus Progressive encephalopathy Spastic ataxia Low back pain Arteriosclerosis of small cerebral arteries Diffuse demyelination of the cerebral white matter Pseudobulbar paralysis Diffuse white matter abnormalities Knee pain Pseudobulbar signs Arteriosclerosis Autistic behavior Peripheral demyelination Frontal release signs Neurofibrillary tangles Hypoventilation Aspiration pneumonia Central apnea Tics Gait imbalance Parkinsonism with favorable response to dopaminergic medication Axial dystonia Vertical supranuclear gaze palsy Abnormal saccadic eye movements Eyelid apraxia Vasculitis Neuronal loss in basal ganglia Granulovacuolar degeneration Frontolimbic dementia Spasticity Involuntary movements Encephalopathy Alopecia Osteoporosis Sparse hair Dyskinesia Ophthalmoplegia Myocardial infarction Acrocyanosis Systemic lupus erythematosus Olivopontocerebellar atrophy Obsessive-compulsive behavior Impotence Agitation Bowel incontinence Abnormality of the thyroid gland Atrophy/Degeneration affecting the brainstem Bipolar affective disorder Urinary bladder sphincter dysfunction Action tremor Diffuse cerebral atrophy Disinhibition Dysdiadochokinesis Dysesthesia Saccadic smooth pursuit Poor fine motor coordination Pollakisuria Abnormality of brainstem morphology Abnormal nerve conduction velocity Impaired distal vibration sensation Diffuse cerebellar atrophy Obsessive-compulsive trait Inertia Subcortical dementia Premature ovarian insufficiency Spastic paraparesis Intracranial hemorrhage Antiphospholipid antibody positivity Heart murmur Cutis marmorata Atrophic scars Oral-pharyngeal dysphagia Arteriovenous malformation Facial paralysis Hemianopia Arterial stenosis Thromboembolic stroke Amaurosis fugax Vascular skin abnormality Lupus anticoagulant Paraparesis Peripheral neuropathy Cerebellar atrophy Hyporeflexia Cerebral cortical atrophy Autism Hypothyroidism Proximal muscle weakness Aggressive behavior Distal sensory impairment Limb ataxia Horizontal nystagmus Stridor Gliosis Eosinophilia Central nervous system degeneration Insomnia Increased CSF protein Delusions Short attention span Sleep disturbance Senile plaques Spastic dysarthria Constipation Limb pain Hypersomnia Trigeminal neuralgia Orthostatic hypotension Spastic hemiparesis Focal T2 hyperintense basal ganglia lesion Progressive extrapyramidal muscular rigidity Abnormal pupillary function Loss of facial expression Akinetic mutism Progressive forgetfulness Diffuse spongiform leukoencephalopathy Poor visual behavior for age Amyloidosis of peripheral nerves Abnormality of vision Lewy bodies EEG with persistent abnormal rhythmic activity Dysphasia Nausea Intellectual disability, moderate Intellectual disability, mild Vomiting Blindness Edema Fever Tinnitus Loss of consciousness Micrographia Short stepped shuffling gait Weak voice Severe hearing impairment Restlessness Drowsiness Episodic ataxia Migraine with aura Phonophobia Borderline personality disorder Migraine without aura Personality disorder Transient unilateral blurring of vision Substantia nigra gliosis Vestibular nystagmus Facial grimacing Mutism Pneumonia Abdominal pain Lethargy Nausea and vomiting Neutropenia Dehydration Choreoathetosis Anorexia Pancreatitis Hyperammonemia Cerebral atrophy Respiratory failure Immunodeficiency Dyspnea Language impairment Apnea Cough Falls Dysphonia Ischemic stroke Torticollis Frequent falls Aspiration Thrombocytopenia Renal insufficiency Hyperhidrosis Acute myeloid leukemia Weight loss Pruritus Abnormal bleeding Chest pain Lower limb pain Pulmonary arterial hypertension Spontaneous abortion Venous thrombosis Myelodysplasia Laryngeal dystonia Orofacial dyskinesia Cardiomyopathy Morphological abnormality of the pyramidal tract Generalized dystonia Arterial thrombosis Chronic myelogenous leukemia Failure to thrive Muscular hypotonia Anemia Feeding difficulties Hepatomegaly Optic atrophy Respiratory distress Impaired tandem gait


If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Myopia and Anteverted nares, related diseases and genetic alterations