Cognitive impairment, and Apraxia

Diseases related with Cognitive impairment and Apraxia

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

Top matches:

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

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

A degenerative disease of the brain characterized by the insidious onset of dementia. Impairment of memory, judgment, attention span, and problem solving skills are followed by severe apraxia and a global loss of cognitive abilities. The condition primarily occurs after age 60, and is marked pathologically by severe cortical atrophy and the triad of senile plaques, neurofibrillary tangles, and neuropil threads. [HPO:probinson]

ALZHEIMER DISEASE 2; AD2 Is also known as alzheimer disease associated with apoe4|alzheimer disease 2, late-onset

Related symptoms:

  • Hypertension
  • Dementia
  • Diabetes mellitus
  • Stroke
  • Parkinsonism


SOURCES: OMIM MESH MENDELIAN

More info about ALZHEIMER DISEASE 2; AD2

Other less relevant matches:

Related symptoms:

  • Global developmental delay
  • Generalized hypotonia
  • Ataxia
  • Nystagmus
  • Strabismus


SOURCES: OMIM MENDELIAN

More info about JOUBERT SYNDROME 31; JBTS31

Ataxia-oculomotor apraxia-4 is an autosomal recessive neurologic disorder characterized by onset of dystonia and ataxia in the first decade. Additional features include oculomotor apraxia and peripheral neuropathy. Some patients may show cognitive impairment. The disorder is progressive, and most patients become wheelchair-bound in the second or third decade (summary by Bras et al., 2015).For a discussion of genetic heterogeneity of ataxia-oculomotor apraxia, see AOA1 (OMIM ).

ATAXIA-OCULOMOTOR APRAXIA TYPE 4 Is also known as aoa4

Related symptoms:

  • Ataxia
  • Muscle weakness
  • Cognitive impairment
  • Peripheral neuropathy
  • Cerebellar atrophy


SOURCES: OMIM ORPHANET MENDELIAN

More info about ATAXIA-OCULOMOTOR APRAXIA TYPE 4

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Ataxia
  • Cognitive impairment
  • Syndactyly


SOURCES: OMIM MENDELIAN

More info about JOUBERT SYNDROME 17; JBTS17

Related symptoms:

  • Seizures
  • Cognitive impairment
  • Delayed speech and language development
  • Tremor
  • Dementia


SOURCES: OMIM MENDELIAN

More info about PARKINSON DISEASE 8, AUTOSOMAL DOMINANT; PARK8

Spinocerebellar ataxia type 29 (SCA29) is a rare subtype of autosomal dominant cerebellar ataxia type I (ADCA type I; see this term) characterized by very slowly progressive or non-progressive ataxia, dysarthria, oculomotor abnormalities and intellectual disability.

SPINOCEREBELLAR ATAXIA TYPE 29 Is also known as cnpca|aplasia of cerebellar vermis|congenital nonprogressive spinocerebellar ataxia|cerebellar vermis aplasia|sca29|cerebellar ataxia, congenital nonprogressive, autosomal dominant|acv

Related symptoms:

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


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about SPINOCEREBELLAR ATAXIA TYPE 29

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

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

Symptoms // Phenotype % cases
Ataxia Common - Between 50% and 80% cases
Seizures Uncommon - Between 30% and 50% cases
Tremor Uncommon - Between 30% and 50% cases
Oculomotor apraxia Uncommon - Between 30% and 50% cases
Global developmental delay Uncommon - Between 30% and 50% cases

Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases

Dementia Generalized hypotonia Alzheimer disease Parkinsonism Neurofibrillary tangles Nystagmus Delayed speech and language development Cerebellar atrophy Intellectual disability

Rare Symptoms - Less than 30% cases

Gliosis Cerebral cortical atrophy Rigidity Akinesia Neuronal loss in central nervous system Intention tremor Aphasia Frontotemporal dementia Lewy bodies Senile plaques Motor delay Limb ataxia Molar tooth sign on MRI Cerebellar hypoplasia Truncal ataxia Memory impairment Abnormality of eye movement Mental deterioration Myoclonus Strabismus Delayed social development Brain atrophy Neurodegeneration Paralysis Cerebral atrophy Behavioral abnormality Dysphagia Visual fixation instability Truncal titubation Delayed fine motor development Clumsiness Diffuse cerebellar atrophy Abnormal saccadic eye movements Vertical nystagmus Nonprogressive cerebellar ataxia Titubation Agenesis of cerebellar vermis Cerebellar vermis atrophy Gaze-evoked nystagmus Focal impaired awareness seizure Dysdiadochokinesis Delayed gross motor development Hemiparesis Language impairment Hallucinations Astrocytosis Diminished motivation Limb apraxia Progressive language deterioration Hypersexuality Bulimia Hyperorality Dyscalculia Inappropriate behavior Perseveration Dysgraphia Disinhibition Dilation of lateral ventricles Mutism Dyslexia Restlessness Polyphagia Dysphasia Global brain atrophy Agitation Amyotrophic lateral sclerosis Impulsivity Personality changes Apathy Horizontal nystagmus Cerebral palsy Focal-onset seizure Hypertonia Myelomeningocele Postural tremor Abnormal autonomic nervous system physiology Myocardial infarction Bradykinesia Long-tract signs Agnosia Postural instability Ventriculomegaly Hypoplasia of the corpus callosum Intermittent hyperventilation Hyperventilation Resting tremor Cerebellar vermis hypoplasia Postaxial polydactyly Abnormality of the eye Polydactyly Syndactyly Impaired vibratory sensation Tetraplegia Areflexia Dystonia Peripheral neuropathy Stroke Diabetes mellitus Broad-based gait Poor coordination Muscle weakness Abnormal cerebellum morphology Unsteady gait Dysmetria Poor speech Gait ataxia Intellectual disability, mild Dysarthria Hyperreflexia Pontocerebellar atrophy Incoordination Hand tremor Esotropia Autistic behavior Autism Absent speech Motor aphasia Substantia nigra gliosis Parkinsonism with favorable response to dopaminergic medication Hyposmia Abnormality of movement Shuffling gait Hypertension Repetitive compulsive behavior


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