Cognitive impairment, and Urinary incontinence

Diseases related with Cognitive impairment and Urinary incontinence

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


Top matches:

Medium 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

Medium match EARLY-ONSET LAFORA BODY DISEASE


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

Medium match FRONTOTEMPORAL DEMENTIA, CHROMOSOME 3-LINKED; FTD3


A substantial minority of degenerative dementias, perhaps 10%, lack the distinctive pathologic features that allow subclassification as Alzheimer disease (see {104300}) or other forms of dementia. In perhaps half of these cases of nonspecific dementia, there is a positive family history of dementia, with an apparent autosomal dominant mode of inheritance.See also frontotemporal lobe dementia (FLDEM ), which maps to chromosome 17 and is caused by mutation in the microtubule-associated protein tau gene (MAPT ).

FRONTOTEMPORAL DEMENTIA, CHROMOSOME 3-LINKED; FTD3 Is also known as dem|dementia, familial nonspecific|dmt1

Related symptoms:

  • Hyperreflexia
  • Gait disturbance
  • Dystonia
  • Cerebral atrophy
  • Babinski sign


SOURCES: OMIM MESH MENDELIAN

More info about FRONTOTEMPORAL DEMENTIA, CHROMOSOME 3-LINKED; FTD3

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Other less relevant matches:

Medium match SPONGIFORM ENCEPHALOPATHY WITH NEUROPSYCHIATRIC FEATURES


Related symptoms:

  • Ataxia
  • Dysarthria
  • Gait disturbance
  • Cerebral atrophy
  • Depressivity


SOURCES: MESH OMIM MENDELIAN

More info about SPONGIFORM ENCEPHALOPATHY WITH NEUROPSYCHIATRIC FEATURES

Medium match NEURODEGENERATION WITH ATAXIA, DYSTONIA, AND GAZE PALSY, CHILDHOOD-ONSET; NADGP


Childhood-onset neurodegeneration with ataxia, dystonia, and gaze palsy is an autosomal recessive progressive disorder characterized by onset of gait ataxia, cognitive decline, and gaze palsy in the first or second decades. Additional features include dysarthria, dystonia, and athetoid movements. Some patients may become wheelchair-bound as young adults (summary by Haack et al., 2016).

Related symptoms:

  • Seizures
  • Hearing impairment
  • Ataxia
  • Nystagmus
  • Hyperreflexia


SOURCES: OMIM MENDELIAN

More info about NEURODEGENERATION WITH ATAXIA, DYSTONIA, AND GAZE PALSY, CHILDHOOD-ONSET; NADGP

Medium match AUTOSOMAL DOMINANT SPASTIC PARAPLEGIA TYPE 73


Autosomal dominant spastic paraplegia type 73 is a pure form of hereditary spastic paraplegia characterized by adult onset of crural spastic paraparesis, hyperreflexia, extensor plantar responses, proximal muscle weakness, mild muscle atrophy, decreased vibration sensation at ankles, and mild urinary dysfunction. Foot deformities have been reported to eventually occur in some patients. No abnormalities are noted on brain magnetic resonance imaging and peripheral nerve conduction velocity studies.

AUTOSOMAL DOMINANT SPASTIC PARAPLEGIA TYPE 73 Is also known as spg73

Related symptoms:

  • Seizures
  • Muscle weakness
  • Spasticity
  • Hyperreflexia
  • Skeletal muscle atrophy


SOURCES: OMIM ORPHANET MENDELIAN

More info about AUTOSOMAL DOMINANT SPASTIC PARAPLEGIA TYPE 73

Medium match AUTOSOMAL DOMINANT SPASTIC PARAPLEGIA TYPE 36


Autosomal dominant spastic paraplegia type 36 (SPG36) is a complex form of hereditary spastic paraplegia, characterized by an onset in childhood or adulthood of progressive spastic paraplegia (with spastic gait, spasticity, lower limb weakness, pes cavus and urinary urgency) associated with the additional manifestation of peripheral sensorimotor neuropathy.

AUTOSOMAL DOMINANT SPASTIC PARAPLEGIA TYPE 36 Is also known as spg36

Related symptoms:

  • Strabismus
  • Spasticity
  • Peripheral neuropathy
  • Hyperreflexia
  • Babinski sign


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about AUTOSOMAL DOMINANT SPASTIC PARAPLEGIA TYPE 36

Medium match PARKINSON DISEASE 7, AUTOSOMAL RECESSIVE EARLY-ONSET; PARK7


Related symptoms:

  • Cognitive impairment
  • Hyperreflexia
  • Skeletal muscle atrophy
  • Tremor
  • Babinski sign


SOURCES: OMIM MESH MENDELIAN

More info about PARKINSON DISEASE 7, AUTOSOMAL RECESSIVE EARLY-ONSET; PARK7

Medium match EPILEPSY, FOCAL, WITH SPEECH DISORDER AND WITH OR WITHOUT MENTAL RETARDATION; FESD


Focal epilepsy with speech disorder is a childhood-onset seizure disorder with a highly variable phenotype. Seizures typically occur in the temporal lobe, or rolandic brain region, which affects speech and language, and electroencephalogram (EEG) characteristically shows centrotemporal spike-wave discharges. EEG abnormalities often occur during sleep and may manifest as continuous spike-wave discharges during slow-wave sleep (CSWS or CSWSS). FESD represents an electroclinical spectrum that ranges from severe early-onset seizures associated with delayed psychomotor development, persistent speech difficulties, and mental retardation to a more benign entity characterized by childhood onset of mild or asymptomatic seizures associated with transient speech difficulties followed by remission of seizures in adolescence and normal psychomotor development. There is incomplete penetrance and intrafamilial variability, even among family members who carry the same GRIN2A mutation (summary by Lesca et al., 2013; Lemke et al., 2013; Carvill et al., 2013).The disorder represented here encompasses several clinical entities, including Landau-Kleffner syndrome (LKS), epileptic encephalopathy with continuous spike and wave during slow-wave sleep (ECSWS; CSWSS), autosomal dominant rolandic epilepsy, mental retardation, and speech dyspraxia (ADRESD; RESDAD), and benign epilepsy with centrotemporal spikes (BECTS; see {117100}). LKS is classically described as a childhood-onset variant of epileptic aphasia. It is associated with EEG abnormalities occurring in the temporal lobe of the language-dominant hemisphere, even in the absence of overt clinical seizures. LKS is sometimes referred to as an 'acquired aphasia' because most affected children show normal psychomotor development until the onset of seizures, usually between 3 and 7 years, although some may have prior delayed development. A hallmark of the disorder is severe impairment in auditory language comprehension and speech. Some patients may also have persistent intellectual disability or behavioral abnormalities reminiscent of autism or attention deficit-hyperactivity disorder. EEG abnormalities typically include centrotemporal spikes suggestive of rolandic epilepsy or continuous spike and waves during slow-wave sleep. The presence of CSWS is associated with more widespread behavioral and cognitive regression than LKS, although the 2 disorders may be considered part of a spectrum. There is controversy about the precise definition of LKS and its relationship to CSWS that stems mainly from the phenotypic heterogeneity of the disorder (summary by Stefanatos, 2011).

EPILEPSY, FOCAL, WITH SPEECH DISORDER AND WITH OR WITHOUT MENTAL RETARDATION; FESD Is also known as aphasia, acquired, with epilepsy

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about EPILEPSY, FOCAL, WITH SPEECH DISORDER AND WITH OR WITHOUT MENTAL RETARDATION; FESD

Medium match METACHROMATIC LEUKODYSTROPHY DUE TO SAPOSIN B DEFICIENCY


METACHROMATIC LEUKODYSTROPHY DUE TO SAPOSIN B DEFICIENCY Is also known as saposin b deficiency|metachromatic leukodystrophy due to cerebroside sulfatase activator deficiency

Related symptoms:

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Muscle weakness
  • Muscular hypotonia


SOURCES: MESH OMIM MENDELIAN

More info about METACHROMATIC LEUKODYSTROPHY DUE TO SAPOSIN B DEFICIENCY

Top 5 symptoms//phenotypes associated to Cognitive impairment and Urinary incontinence

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

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

Uncommon Symptoms - Between 30% and 50% cases


Mental deterioration Seizures Spasticity Aggressive behavior Anxiety Gait ataxia Mutism

Rare Symptoms - Less than 30% cases


Encephalopathy Neurodegeneration Hyperorality Loss of speech Tremor Parkinsonism Apraxia Dysdiadochokinesis Muscle weakness Skeletal muscle atrophy Urinary urgency Spastic paraplegia Paraplegia Lower limb spasticity Spastic gait Apathy Progressive spastic paraplegia Impaired vibration sensation in the lower limbs Peripheral neuropathy Limb muscle weakness Lower limb muscle weakness Global developmental delay Generalized hypotonia Developmental regression Hemiparesis Personality changes Proximal muscle weakness Stereotypy Rigidity Myoclonus Confusion Neuronal loss in central nervous system Behavioral abnormality Progressive cerebellar ataxia Generalized myoclonic seizures Dysmetria Hallucinations Spastic tetraparesis Paranoia Cerebellar atrophy Dystonia Cerebral atrophy Dysphagia Gait disturbance Abnormal pyramidal sign Memory impairment Agnosia Blepharospasm Delayed speech and language development Abnormal facial shape Microcephaly Tetraparesis Agoraphobia Leukodystrophy Decreased nerve conduction velocity Intellectual disability Bulimia Psychotic episodes Amyotrophic lateral sclerosis Resting tremor Peripheral demyelination Postural tremor Fasciculations Bradykinesia Respiratory failure Abnormality of the periventricular white matter Abnormal brainstem MRI signal intensity Motor deterioration CNS demyelination Impaired distal tactile sensation Intellectual disability, severe Polyneuropathy Perisylvian polymicrogyria Focal-onset seizure Speech apraxia Oromotor apraxia Epileptic spasms Aphasia Dysphasia Language impairment Status epilepticus Generalized-onset seizure Epileptic encephalopathy Febrile seizures Polymicrogyria Hyperactivity EEG with centrotemporal focal spike waves Neurological speech impairment Continuous spike and waves during slow sleep Demyelinating motor neuropathy Attention deficit hyperactivity disorder Autistic behavior Muscular hypotonia Intellectual disability, moderate EEG abnormality Hyporeflexia Autism Demyelinating sensory neuropathy Arthritis Impaired distal proprioception Frontal cortical atrophy Violent behavior Auditory hallucinations Delusions Bowel incontinence Impulsivity Abnormality of extrapyramidal motor function Gliosis Abnormal cerebellum morphology Cerebral cortical atrophy Depressivity Lack of insight Frontal release signs Nystagmus Dyscalculia Perseveration Inappropriate behavior Dysgraphia Disinhibition Astrocytosis Orofacial dyskinesia Senile plaques Frontotemporal dementia Restlessness Global brain atrophy Alzheimer disease Hearing impairment Unsteady gait Impaired temperature sensation Distal lower limb amyotrophy Impaired distal vibration sensation Sensory neuropathy Distal muscle weakness Pes cavus Falls Strabismus Abnormal lower-limb motor evoked potentials Progressive pes cavus Abnormality of the cerebrospinal fluid Progressive spastic paraparesis Degeneration of the lateral corticospinal tracts Distal lower limb muscle weakness Tetraplegia Limb ataxia Impaired vibratory sensation EMG abnormality Spastic tetraplegia Psychosis Frequent falls Abnormality of the foot Difficulty walking Spastic ataxia Vertical supranuclear gaze palsy Athetosis Lafora bodies Oculomotor apraxia Spastic hemiparesis



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