Cognitive impairment, and Dysphagia

Diseases related with Cognitive impairment and Dysphagia

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


Top matches:

Medium match ABETA AMYLOIDOSIS, IOWA TYPE


Hereditary cerebral hemorrhage with amyloidosis (HCHWA), Iowa type is a form of HCHWA (see this term) characterized by age of onset between 50-66 years of age, memory impairment, myoclonic jerks, expressive dysphagia, short-stepped gait, personality changes and lobar intracerebral hemorrhages.

ABETA AMYLOIDOSIS, IOWA TYPE Is also known as abetad23n amyloidosis|hchwa, iowa type|hereditary cerebral hemorrhage with amyloidosis, iowa type

Related symptoms:

  • Gait disturbance
  • Dysphagia
  • Behavioral abnormality
  • Dementia
  • Myoclonus


SOURCES: ORPHANET MENDELIAN

More info about ABETA AMYLOIDOSIS, IOWA TYPE

Low match BILATERAL PERISYLVIAN POLYMICROGYRIA


Polymicrogyria (PMG) is a malformation of cortical development in which the brain surface is irregular and the normal gyral pattern replaced by multiple small, partly fused gyri separated by shallow sulci. Microscopic examination shows a simplified 4-layered or unlayered cortex. Several patterns of PMG, including bilateral frontal, bilateral perisylvian, and bilateral mesial occipital PMG, have been described on the basis of their topographic distribution. All but the perisylvian form appear to be rare. Bilateral perisylvian PMG (BPP) often results in a typical clinical syndrome that is manifested by mild mental retardation, epilepsy, and pseudobulbar palsy, which causes difficulties with expressive speech and feeding (Kuzniecky et al., 1993).PMG may be a feature of other conditions as well (see, e.g., {300643}).

BILATERAL PERISYLVIAN POLYMICROGYRIA Is also known as perisylvian syndrome, congenital bilateral|bpp|cbps|pmgx

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about BILATERAL PERISYLVIAN POLYMICROGYRIA

Low match SPINOCEREBELLAR ATAXIA 48; SCA48


SCA48 is an autosomal dominant neurodegenerative disorder characterized by onset of gait ataxia and/or cognitive-affective symptoms in mid-adulthood. Patients may present with involvement of either system, but most eventually develop impairment in both. Features include gait ataxia, dysarthria, and dysphagia, as well as anxiety and deficits in executive function. Brain imaging shows selective atrophy of the posterior areas of the cerebellar vermis (summary by Genis et al., 2018).

Related symptoms:

  • Ataxia
  • Dysarthria
  • Dysphagia
  • Cerebellar atrophy
  • Gait ataxia


SOURCES: OMIM MENDELIAN

More info about SPINOCEREBELLAR ATAXIA 48; SCA48

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Other less relevant matches:

Low match AMYOTROPHIC LATERAL SCLEROSIS, SUSCEPTIBILITY TO, 24; ALS24


Related symptoms:

  • Spasticity
  • Cognitive impairment
  • Hyperreflexia
  • Dysarthria
  • Dysphagia


SOURCES: OMIM MENDELIAN

More info about AMYOTROPHIC LATERAL SCLEROSIS, SUSCEPTIBILITY TO, 24; ALS24

Low match SPINOCEREBELLAR ATAXIA 19; SCA19


SPINOCEREBELLAR ATAXIA 19; SCA19 Is also known as sca22|spinocerebellar ataxia 22

Related symptoms:

  • Seizures
  • Ataxia
  • Nystagmus
  • Cognitive impairment
  • Hyperreflexia


SOURCES: OMIM MENDELIAN

More info about SPINOCEREBELLAR ATAXIA 19; SCA19

Low match MEGALENCEPHALIC LEUKOENCEPHALOPATHY WITH SUBCORTICAL CYSTS


Megalencephalic leukoencephalopathy with subcortical cysts (MLC) is a form of leukodystrophy that is characterized by infantile-onset macrocephaly, often with mild neurologic signs at presentation (such as mild motor delay), which worsen with time, leading to poor ambulation, falls, ataxia, spasticity, increasing seizures and cognitive decline. Brain magnetic resonance imaging reveals diffusely abnormal and mildly swollen white matter as well as subcortical cysts in the anterior temporal and frontoparietal regions.

MEGALENCEPHALIC LEUKOENCEPHALOPATHY WITH SUBCORTICAL CYSTS Is also known as mlc|megalencephaly-cystic leukodystrophy syndrome|van der knaap disease|vl|vacuolating megalencephalic leukoencephalopathy with subcortical cysts|van der knaap syndrome|lvm|megalencephalic leukodystrophy|leukoencephalopathy with swelling and cysts

Related symptoms:

  • Seizures
  • Ataxia
  • Spasticity
  • Delayed speech and language development
  • Motor delay


SOURCES: OMIM ORPHANET MENDELIAN

More info about MEGALENCEPHALIC LEUKOENCEPHALOPATHY WITH SUBCORTICAL CYSTS

Low match FRONTOTEMPORAL LOBAR DEGENERATION WITH TDP43 INCLUSIONS, GRN-RELATED


Clinically, FTLD-TDP is a type of frontotemporal dementia (see FTD; {600274}) which shows variable phenotypic expression, but most commonly presents with social, behavioral, or language deterioration, rather than memory or motor deficits. Other variations of the phenotype have been referred to as 'dysphasic disinhibition dementia' and 'primary progressive aphasia' (PPA) (Huey et al., 2006; Mukherjee et al., 2006; Mesulam et al., 2007). Some patients may present with a clinical diagnosis of Alzheimer disease (AD ) or Parkinson disease (PD ), which are part of the phenotypic spectrum of this disorder (Brouwers et al., 2007). Genetic Heterogeneity of FTLD-TDPThe specific presence of TDP43 (TARDBP )-positive inclusions on neuropathologic examination defines a genetically heterogeneous group of dementias known collectively as 'FTLD-TDP.' FTLD-TDP is a neuropathologic diagnosis; only about 20% of patients with this neuropathologic diagnosis have GRN mutations (review by Van Deerlin et al., 2010).TDP43-positive inclusions also occur in ALS10 (OMIM ), caused by mutation in the TARDBP gene (OMIM ); IBMPFD (OMIM ), caused by mutation in the VCP gene (OMIM ); and FTDALS (OMIM ), caused by mutation in the C9ORF72 gene (OMIM ).Mackenzie and Rademakers (2007) provided a detailed review of the molecular genetics of FTLD, with special emphasis on FTLDU. Cairns and Ghoshal (2010) reviewed the molecular pathology and genetic heterogeneity of FTLD, including FTLD-TDP, and also noted that FTLDU is now referred to as FTLD-TDP.

FRONTOTEMPORAL LOBAR DEGENERATION WITH TDP43 INCLUSIONS, GRN-RELATED Is also known as dementia, hereditary dysphasic disinhibition|ftld-tdp, grn-related|frontotemporal dementia with tdp43 inclusions, grn-related|ftldu|frontotemporal lobar degeneration with ubiquitin-positive inclusions|frontotemporal dementia, ubiquitin-positive|ftdu|hddd

Related symptoms:

  • Ataxia
  • Cognitive impairment
  • Tremor
  • Dysphagia
  • Behavioral abnormality


SOURCES: ORPHANET OMIM MENDELIAN

More info about FRONTOTEMPORAL LOBAR DEGENERATION WITH TDP43 INCLUSIONS, GRN-RELATED

Low match SPINOCEREBELLAR ATAXIA TYPE 28


Spinocerebellar ataxia type 28 (SCA28) is a very rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term). It is characterized by juvenile onset, slowly progressive cerebellar ataxia due to Purkinje cell degeneration.

SPINOCEREBELLAR ATAXIA TYPE 28 Is also known as sca28

Related symptoms:

  • Ataxia
  • Nystagmus
  • Spasticity
  • Ptosis
  • Cognitive impairment


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about SPINOCEREBELLAR ATAXIA TYPE 28

Low 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

Top 5 symptoms//phenotypes associated to Cognitive impairment and Dysphagia

Symptoms // Phenotype % cases
Dysarthria Common - Between 50% and 80% cases
Ataxia Uncommon - Between 30% and 50% cases
Hyperreflexia Uncommon - Between 30% and 50% cases
Rigidity Uncommon - Between 30% and 50% cases
Dystonia Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

Patients with Cognitive impairment and Dysphagia. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Parkinsonism Akinesia Limb ataxia Tremor Spasticity Amyotrophic lateral sclerosis Gait ataxia Cerebellar atrophy Gait disturbance Paralysis Delayed speech and language development Seizures Behavioral abnormality Dementia Memory impairment Myoclonus

Rare Symptoms - Less than 30% cases


Motor delay Astrocytosis Frontotemporal dementia Intellectual disability Nystagmus Involuntary movements Neuronal loss in central nervous system Gliosis Limb dystonia Dyslexia Postural tremor Abnormality of eye movement Mental deterioration Progressive cerebellar ataxia Global developmental delay Language impairment Intellectual disability, mild Stroke Repetitive compulsive behavior Limb apraxia Progressive language deterioration Hypersexuality Diminished motivation Perseveration Bulimia Hyperorality Dyscalculia Inappropriate behavior Hypertonia Dysgraphia Disinhibition Dilation of lateral ventricles Senile plaques Lewy bodies Restlessness Neurofibrillary tangles Polyphagia Dysphasia Aphasia Ptosis Ophthalmoparesis Depressivity Pain Laryngeal dystonia Orofacial dyskinesia Morphological abnormality of the pyramidal tract Generalized dystonia Dysphonia Ischemic stroke Torticollis Bradykinesia Dyskinesia Unsteady gait Abnormal pyramidal sign Dysmetric saccades Babinski sign Kinetic tremor Facial grimacing Agitation Head tremor Slow saccadic eye movements Gaze-evoked nystagmus Lower limb hyperreflexia Limb pain Lower limb pain Abnormality of movement Ophthalmoplegia Global brain atrophy Megalencephaly Alzheimer disease Urinary incontinence Abnormal lower motor neuron morphology Bulbar signs Tetraparesis Absent speech Respiratory insufficiency Axonal loss Athetosis Drooling Pallor Agoraphobia Dysmetria Truncal ataxia Anxiety Facial tics Pseudobulbar signs Atypical absence seizures Perisylvian polymicrogyria Pseudobulbar paralysis Polymicrogyria Generalized tonic-clonic seizures Abnormality of the cerebral vasculature Cerebral hemorrhage Hyporeflexia Horizontal nystagmus Impulsivity Cerebral atrophy Personality changes Apathy Mutism Hallucinations Clumsiness Hemiparesis Apraxia Brain atrophy Neurodegeneration Cerebral cortical atrophy Diffuse spongiform leukoencephalopathy Urinary urgency Diffuse swelling of cerebral white matter Abnormal muscle tone Motor deterioration Leukoencephalopathy Leukodystrophy Progressive neurologic deterioration Abnormality of the cerebral white matter Macrocephaly Intermittent microsaccadic pursuits Gaze-evoked horizontal nystagmus Cogwheel rigidity Retrocollis



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