Cognitive impairment, and Falls

Diseases related with Cognitive impairment and Falls

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

Top matches:

Congenital myopathy with internal nuclei and atypical cores is a rare genetic skeletal muscle disease characterized by neonatal hypotonia, distal more than proximal muscle weakness, progressive exercise intolerance with prominent myalgias, and mild-to-moderate overall motor impairment with preserved ambulation. Face, extraocular, cardiac, and respiratory muscles are unaffected. Mild cognitive impairment is also noted in most patients.

CONGENITAL MYOPATHY WITH INTERNAL NUCLEI AND ATYPICAL CORES Is also known as cnm4|centronuclear myopathy type 4

Related symptoms:

  • Generalized hypotonia
  • Muscle weakness
  • Cognitive impairment
  • Fatigue
  • Myopathy


SOURCES: ORPHANET OMIM MENDELIAN

More info about CONGENITAL MYOPATHY WITH INTERNAL NUCLEI AND ATYPICAL CORES

PRKAR1B-related neurodegenerative dementia with intermediate filaments is a rare, genetic neurodegenerative disease characterized by dementia and mild parkinsonism with poor levodopa response. Presenting clinical manifestations are memory problems, short attention span, disorientation, language impairment, rigidity, bradykinesia, postural instability and behavioral changes, including apathy, anxiety and delusions.

Related symptoms:

  • Dementia
  • Anxiety
  • Falls
  • Postural instability
  • Parkinsonism


SOURCES: ORPHANET MENDELIAN

More info about PRKAR1B-RELATED NEURODEGENERATIVE DEMENTIA WITH INTERMEDIATE FILAMENTS

Myoclonic Astatic Epilepsy (MAE) is a rare epilepsy syndrome of childhood characterized by the occurrence of multiple different seizure types including myoclonic-astatic, generalized tonic-clonic and absence seizures, usually in previously healthy children.

MYOCLONIC-ASTASTIC EPILEPSY Is also known as mae|emas|myoclonic atonic epilepsy|doose syndrome|epilepsy with myoclonic-astatic seizures|myoclonic-astatic epilepsy in early childhood|epilepsy with myoclonic-atonic seizures

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about MYOCLONIC-ASTASTIC EPILEPSY

Other less relevant matches:

Related symptoms:

  • Hyperreflexia
  • Dysarthria
  • Tremor
  • Dementia
  • Kyphoscoliosis


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about PARKINSON-DEMENTIA SYNDROME

Early-onset Lafora body disease is an extremely rare, inherited form of progressive myoclonic epilepsy characterized by progressive myoclonus epilepsy and Lafora bodies, with an early onset (at around 5 years) and a prolonged disease course. Other manifestations include progressive dysarthria, ataxia, cognitive decline, psychosis, dementia, spasticity, dysarthria, myoclonus, and ataxia. The disease course typically extends for several decades.

Related symptoms:

  • Seizures
  • Ataxia
  • Spasticity
  • Hyperreflexia
  • Dysarthria


SOURCES: ORPHANET OMIM MENDELIAN

More info about EARLY-ONSET LAFORA BODY DISEASE

Huntington disease-like 2 (HDL2) is a severe neurodegenerative disorder considered part of the neuroacanthocytosis syndromes (see this term) characterized by a triad of movement, psychiatric, and cognitive abnormalities.

HUNTINGTON DISEASE-LIKE 2 Is also known as hdl2

Related symptoms:

  • Seizures
  • Ataxia
  • Hyperreflexia
  • Dysarthria
  • Gait disturbance


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about HUNTINGTON DISEASE-LIKE 2

AUTOSOMAL RECESSIVE SPASTIC ATAXIA-OPTIC ATROPHY-DYSARTHRIA SYNDROME Is also known as spax4|autosomal recessive spastic ataxia type 4

Related symptoms:

  • Ataxia
  • Nystagmus
  • Delayed speech and language development
  • Motor delay
  • Hyperreflexia


SOURCES: OMIM ORPHANET MENDELIAN

More info about AUTOSOMAL RECESSIVE SPASTIC ATAXIA-OPTIC ATROPHY-DYSARTHRIA SYNDROME

Spinocerebellar ataxia type 37 (SCA37) is a subtype of autosomal dominant cerebellar ataxia type 1 (ADCA type 1; see this term), characterized by a cerebellar syndrome along with altered vertical eye movements.

SPINOCEREBELLAR ATAXIA TYPE 37 Is also known as sca37|spinocerebellar ataxia with altered vertical eye movements

Related symptoms:

  • Ataxia
  • Nystagmus
  • Sensorineural hearing impairment
  • Cognitive impairment
  • Dysarthria


SOURCES: ORPHANET OMIM MENDELIAN

More info about SPINOCEREBELLAR ATAXIA TYPE 37

Spinocerebellar ataxia type 35 (SCA35) is a subtype of autosomal dominant cerebellar ataxia type 1 (ADCA type 1; see this term) characterized by the adult-onset of progressive gait and limb ataxia, dysarthria, ocular dysmetria, intention tremor, hyperreflexia and spasmodic torticollis.

SPINOCEREBELLAR ATAXIA TYPE 35 Is also known as sca35

Related symptoms:

  • Intellectual disability
  • Ataxia
  • Nystagmus
  • Delayed speech and language development
  • Peripheral neuropathy


SOURCES: ORPHANET OMIM MENDELIAN

More info about SPINOCEREBELLAR ATAXIA TYPE 35

Dementia with Lewy bodies (DLB) is a neurodegenerative disorder clinically characterized by dementia and parkinsonism, often with fluctuating cognitive function, visual hallucinations, falls, syncopal episodes, and sensitivity to neuroleptic medication. Pathologically, Lewy bodies are present in a pattern more widespread than usually observed in Parkinson disease (see PD; {168600}). Alzheimer disease (AD )-associated pathology and spongiform changes may also be seen (McKeith et al., 1996; Mizutani, 2000; McKeith et al., 2005).

DEMENTIA, LEWY BODY; DLB Is also known as lewy body dementia|diffuse lewy body disease

Related symptoms:

  • Cognitive impairment
  • Dysarthria
  • Depressivity
  • Pneumonia
  • Dementia


SOURCES: ORPHANET OMIM MENDELIAN

More info about DEMENTIA, LEWY BODY; DLB

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

Symptoms // Phenotype % cases
Dysarthria Common - Between 50% and 80% cases
Mental deterioration Common - Between 50% and 80% cases
Ataxia Common - Between 50% and 80% cases
Dementia Uncommon - Between 30% and 50% cases
Hyperreflexia Uncommon - Between 30% and 50% cases

Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases

Bradykinesia Tremor Myoclonus Frequent falls Parkinsonism Seizures Hallucinations Abnormal pyramidal sign Progressive cerebellar ataxia Memory impairment Nystagmus Rigidity

Rare Symptoms - Less than 30% cases

Alzheimer disease Neurofibrillary tangles Lewy bodies Senile plaques Generalized myoclonic seizures Cerebellar atrophy Ophthalmoplegia Intellectual disability Abnormality of eye movement Inappropriate behavior Spastic ataxia Apathy Delusions Delayed speech and language development Gait ataxia Anxiety Postural instability Muscle stiffness Neurodegeneration Dysmetria Unsteady gait Babinski sign Limb ataxia Depressivity Paraparesis Behavioral abnormality Gait disturbance Spastic paraparesis Confusion Generalized hypotonia Dysphagia Sensorineural hearing impairment Upper limb hypertonia Movement abnormality of the tongue Lower limb hypertonia Delayed ability to walk Emotional lability Hyporeflexia Optic atrophy Motor delay Abnormality of the cerebrum Progressive gait ataxia Cogwheel rigidity Neurological speech impairment Gliosis Hand tremor Pseudobulbar paralysis Dysmetric saccades Abnormality of the orbital region Pneumonia Dyskinesia Syncope Incoordination Neuronal loss in central nervous system Apraxia Loss of consciousness Visual hallucinations Supranuclear gaze palsy Vertical supranuclear gaze palsy Neck muscle weakness Torticollis Sensory impairment Scanning speech Clumsiness Truncal ataxia Horizontal nystagmus Dysdiadochokinesis Cerebellar vermis atrophy Caudate atrophy Diffuse cerebellar atrophy Intention tremor Limb dysmetria Abnormal conjugate eye movement Peripheral neuropathy Intellectual disability, mild Difficulty walking Intellectual disability, moderate Abnormal corpus striatum morphology Mutism Functional motor deficit Impaired visuospatial constructive cognition Status epilepticus Epileptic encephalopathy Febrile seizures Generalized tonic-clonic seizures Autistic behavior Developmental regression Aggressive behavior Scoliosis Global developmental delay Abnormal neuron morphology Short stepped shuffling gait Inertia Frontotemporal cerebral atrophy Impulsivity Motor neuron atrophy Spinocerebellar tract degeneration Motor deterioration Shuffling gait Short attention span Diffuse cerebral atrophy Frontotemporal dementia Language impairment Centrally nucleated skeletal muscle fibers Myalgia Neonatal hypotonia Myopathy Fatigue Absence seizures Atonic seizures Primitive reflex Muscle weakness Acanthocytosis Action tremor Personality changes Involuntary movements Chorea Abnormality of movement Irritability Weight loss Cerebral cortical atrophy Dystonia Lafora bodies Paranoia Spastic tetraparesis Abnormal brain FDG positron emission tomography Psychosis Spastic tetraplegia Urinary incontinence Tetraplegia Spasticity Morphological abnormality of the pyramidal tract Ophthalmoparesis Kyphoscoliosis Myoclonic atonic seizures EEG with abnormally slow frequencies Eyelid myoclonus Photosensitive tonic-clonic seizures EEG with spike-wave complexes (>3.5 Hz) Fluctuations in consciousness


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