Cognitive impairment, and Paralysis

Diseases related with Cognitive impairment and Paralysis

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


Top matches:

Medium match BENIGN FAMILIAL NEONATAL EPILEPSY


Benign familial neonatal epilepsy (BFNE) is a rare genetic epilepsy syndrome characterized by the occurrence of afebrile seizures in otherwise healthy newborns with onset in the first few days of life.

BENIGN FAMILIAL NEONATAL EPILEPSY Is also known as bfns|benign familial neonatal convulsions|benign familial neonatal seizures

Related symptoms:

  • Seizures
  • Cognitive impairment
  • Hypertonia


SOURCES: ORPHANET MENDELIAN

More info about BENIGN FAMILIAL NEONATAL EPILEPSY

Low match PROGRESSIVE MYOCLONIC EPILEPSY TYPE 7


A rare, genetic, neurological disorder characterized by childhood to adolescent onset of progressive myoclonus (which becomes very severe and results in major motor impediment) associated with infrequent tonic-clonic seizures, and, occasionally, ataxia. Learning disability prior to seizure onset and mild cognitive decline may be associated.

PROGRESSIVE MYOCLONIC EPILEPSY TYPE 7 Is also known as pme type 7|progressive myoclonus epilepsy type 7|epm7|myoclonus epilepsy and ataxia due to potassium channel mutation|meak|progressive myoclonic epilepsy due to kv3.1 deficiency

Related symptoms:

  • Seizures
  • Ataxia
  • Tremor
  • Cerebellar atrophy
  • Myoclonus


SOURCES: ORPHANET OMIM MENDELIAN

More info about PROGRESSIVE MYOCLONIC EPILEPSY TYPE 7

Low match AMYOTROPHIC LATERAL SCLEROSIS-PARKINSONISM-DEMENTIA COMPLEX


Amyotrophic lateral sclerosis-parkinsonism/dementia complex of Guam is a neurodegenerative disorder with unusually high incidence among the Chamorro people of Guam. Both ALS and parkinsonism-dementia are chronic, progressive, and uniformly fatal disorders in this population. Both diseases are known to occur in the same kindred, the same sibship, and even the same individual.

AMYOTROPHIC LATERAL SCLEROSIS-PARKINSONISM-DEMENTIA COMPLEX Is also known as guam disease|als-pdc|parkinsonism-dementia-als complex|pdals|amyotrophic lateral sclerosis-parkinsonism-dementia of guam syndrome|amyotrophic lateral sclerosis-parkinsonism/dementia complex of guam|lytico-bodig disease

Related symptoms:

  • Muscle weakness
  • Dementia
  • Paralysis
  • Muscle cramps
  • Parkinsonism


SOURCES: OMIM ORPHANET MENDELIAN

More info about AMYOTROPHIC LATERAL SCLEROSIS-PARKINSONISM-DEMENTIA COMPLEX

Mendelian

Too many results?
We can help you with your rare disease diagnosis.

Learn more

Other less relevant matches:

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 AMYOTROPHIC LATERAL SCLEROSIS 14 WITH OR WITHOUT FRONTOTEMPORAL DEMENTIA; ALS14


Amyotrophic lateral sclerosis (ALS) is a fatal neurodegenerative disease characterized by upper and lower motor neuron dysfunction resulting in rapidly progressive paralysis and death from respiratory failure. The pathologic hallmarks of the disease include pallor of the corticospinal tract due to loss of motor neurons, presence of ubiquitin-positive inclusions within surviving motor neurons, and deposition of pathologic TDP43 (TARDBP ) aggregates. Patients with ALS14 may develop frontotemporal dementia (FTD) (summary by Johnson et al., 2010).See inclusion body myopathy with early-onset Paget disease and frontotemporal dementia (IBMPFD ), which is also caused by mutation in the VCP gene and shows some overlapping features. In some families with a VCP mutation, some family members may have ALS14, and other members may have IBMPFD.For a general phenotypic description and a discussion of genetic heterogeneity of amyotrophic lateral sclerosis, see ALS1 (OMIM ).

Related symptoms:

  • Muscle weakness
  • Dysarthria
  • Skeletal muscle atrophy
  • Myopathy
  • Dementia


SOURCES: OMIM MENDELIAN

More info about AMYOTROPHIC LATERAL SCLEROSIS 14 WITH OR WITHOUT FRONTOTEMPORAL DEMENTIA; ALS14

Low match MYASTHENIC SYNDROME, CONGENITAL, 16; CMS16


Congenital myasthenic syndrome is a disorder characterized by variable degrees of muscle fatigability caused by impaired transmission of electrical signals at the neuromuscular junction (NMJ) (summary by Arnold et al., 2015).For a discussion of genetic heterogeneity of CMS, see CMS1A (OMIM ).

MYASTHENIC SYNDROME, CONGENITAL, 16; CMS16 Is also known as myasthenic syndrome, congenital, acetazolamide-responsive

Related symptoms:

  • Muscle weakness
  • Ptosis
  • Cognitive impairment
  • High palate
  • Motor delay


SOURCES: OMIM MENDELIAN

More info about MYASTHENIC SYNDROME, CONGENITAL, 16; CMS16

Low match NARCOLEPSY TYPE 1


Narcolepsy with cataplexy is a sleep disorder characterized by excessive day-time sleepiness associated with uncontrollable sleep urges and cataplexy (loss of muscle tone often triggered by pleasant emotions).

NARCOLEPSY TYPE 1 Is also known as g√Člineau disease|narcoleptic syndrome 1|narcolepsy-cataplexy

Related symptoms:

  • Neoplasm
  • Obesity
  • Hyperactivity
  • Abnormality of the eye
  • Paralysis


SOURCES: ORPHANET OMIM MENDELIAN

More info about NARCOLEPSY TYPE 1

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 MEGALOBLASTIC ANEMIA 1


Imerslund-Grasbeck syndrome is a form of congenital megaloblastic anemia due to vitamin B12 deficiency caused by a defect in the vitamin B12/intrinsic factor receptor. See also congenital pernicious anemia due to a defect in intrinsic factor (OMIM ).Adult pernicious anemia (OMIM ) is a distinct autoimmune disorder associated with plasma autoantibodies to gastric parietal cells or gastric intrinsic factor. In these cases, there is gastric atrophy and a relatively high frequency of associated thyroiditis and myxedema.

MEGALOBLASTIC ANEMIA 1 Is also known as pernicious anemia, juvenile, due to selective intestinal malabsorption of vitamin b12, with proteinuria|mga1|enterocyte intrinsic factor receptor, defect of|enterocyte cobalamin malabsorption|igs|imerslund-grasbeck syndrome

Related symptoms:

  • Anemia
  • Dementia
  • Proteinuria
  • Paralysis
  • Autoimmunity


SOURCES: OMIM ORPHANET MENDELIAN

More info about MEGALOBLASTIC ANEMIA 1

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

Symptoms // Phenotype % cases
Dementia Uncommon - Between 30% and 50% cases
Amyotrophic lateral sclerosis Uncommon - Between 30% and 50% cases
Dysphagia Uncommon - Between 30% and 50% cases
Dysarthria Uncommon - Between 30% and 50% cases
Frontotemporal dementia Uncommon - Between 30% and 50% cases
Mendelian

Accelerate your rare disease diagnosis with us

Learn more

Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Parkinsonism Seizures Gliosis Muscle weakness

Rare Symptoms - Less than 30% cases


Hallucinations Dyslexia Pallor Astrocytosis Ataxia Neurodegeneration Tremor Myoclonus Neuronal loss in central nervous system Agitation Aphasia Apathy Dysphasia Alzheimer disease Global brain atrophy Impulsivity Akinesia Personality changes Memory impairment Language impairment Mutism Limb ataxia Clumsiness Hemiparesis Apraxia Brain atrophy Rigidity Cerebral cortical atrophy Cerebral atrophy Behavioral abnormality Hypnopompic hallucinations Sleep paralysis Paroxysmal drowsiness Polyphagia Disinhibition Neurofibrillary tangles Diminished motivation Vitamin B12 deficiency Poikiloderma Megaloblastic anemia Thyroiditis Sensory impairment Confusion Paresthesia Malabsorption Autoimmunity Proteinuria Anemia Repetitive compulsive behavior Limb apraxia Restlessness Progressive language deterioration Hypersexuality Bulimia Hyperorality Dyscalculia Inappropriate behavior Perseveration Dysgraphia CNS infection Dilation of lateral ventricles Senile plaques Lewy bodies Hypnagogic hallucinations Abnormality of vision Transient global amnesia Pseudobulbar paralysis Involuntary movements Dystonia Fasciculations Limb muscle weakness Respiratory failure Myopathy Skeletal muscle atrophy Facial tics Pseudobulbar signs Atypical absence seizures Perisylvian polymicrogyria Polymicrogyria Athetosis Generalized tonic-clonic seizures Intellectual disability, mild Delayed speech and language development Global developmental delay Intellectual disability Abnormal lower motor neuron morphology Bulbar palsy Muscle cramps Abnormality of movement Mental deterioration Cerebellar atrophy Hypertonia Drooling Axonal loss Abnormal rapid eye movement sleep Hyperactivity Narcolepsy Cataplexy Excessive daytime sleepiness Hypersomnia Brain neoplasm Drowsiness Atonic seizures Slurred speech Syncope Sleep disturbance Abnormality of the eye Obesity Ptosis Neoplasm Fatigable weakness Easy fatigability External ophthalmoplegia Lumbar hyperlordosis Generalized muscle weakness Ophthalmoplegia Hyperlordosis Apnea Gait disturbance Motor delay High palate Malabsorption of Vitamin B12



If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Frontal bossing and Muscular hypotonia of the trunk, related diseases and genetic alterations Frontal bossing and Micropenis, related diseases and genetic alterations Microphthalmia and Joint hyperflexibility, related diseases and genetic alterations Congestive heart failure and Paraplegia, related diseases and genetic alterations

Need help with a diagnosis?

Learn more about how to achieve it with Mendelian


Learn more