Dysarthria, and Urinary incontinence

Diseases related with Dysarthria and Urinary incontinence

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

Top matches:

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

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

Related symptoms:

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


SOURCES: MESH OMIM MENDELIAN

More info about SPONGIFORM ENCEPHALOPATHY WITH NEUROPSYCHIATRIC FEATURES

Other less relevant matches:

Spinocerebellar ataxia type 19 (SCA19) is a very rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term). It is characterized by mild cerebellar ataxia, cognitive impairment, low scores on the Wisconsin Card Sorting Test measuring executive function, myoclonus, and postural tremor.

SPINOCEREBELLAR ATAXIA TYPE 19/22 Is also known as sca19/22

Related symptoms:

  • Ataxia
  • Nystagmus
  • Hyperreflexia
  • Dysarthria
  • Cerebellar atrophy


SOURCES: ORPHANET MENDELIAN

More info about SPINOCEREBELLAR ATAXIA TYPE 19/22

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

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

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

Spastic paraplegia-8 is an autosomal dominant neurologic disorder characterized by adult onset of progressive lower limb spasticity and hyperreflexia resulting in difficulty walking. Some patients may become wheelchair-bound after several decades. Other features may include upper limb spasticity, impaired vibration sense in the distal lower limbs, and urinary urgency or incontinence (summary by de Bot et al., 2013).For a general phenotypic description and a discussion of genetic heterogeneity of autosomal dominant spastic paraplegia, see SPG3A (OMIM ).

AUTOSOMAL DOMINANT SPASTIC PARAPLEGIA TYPE 8 Is also known as spg8

Related symptoms:

  • Ataxia
  • Pain
  • Spasticity
  • Peripheral neuropathy
  • Hyperreflexia


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about AUTOSOMAL DOMINANT SPASTIC PARAPLEGIA TYPE 8

Parkinson disease is the second most common neurogenic disorder after Alzheimer disease (AD ), affecting approximately 1% of the population over age 50. Clinical manifestations include resting tremor, muscular rigidity, bradykinesia, and postural instability. Additional features are characteristic postural abnormalities, dysautonomia, dystonic cramps, and dementia (Polymeropoulos et al., 1996).For a general phenotypic description and a discussion of genetic heterogeneity of Parkinson disease, see {168600}.

PARKINSON DISEASE 1, AUTOSOMAL DOMINANT; PARK1 Is also known as parkinson disease 1, autosomal dominant lewy body

Related symptoms:

  • Spasticity
  • Delayed speech and language development
  • Hyperreflexia
  • Dysarthria
  • Tremor


SOURCES: OMIM MESH MENDELIAN

More info about PARKINSON DISEASE 1, AUTOSOMAL DOMINANT; PARK1

The autosomal dominant cerebellar ataxias (ADCAs) are a clinically and genetically heterogeneous group of disorders characterized by ataxia, dysarthria, dysmetria, and intention tremor. All ADCAs involve some degree of cerebellar dysfunction and a varying degree of signs from other components of the nervous system. A commonly accepted clinical classification (Harding, 1993) divides ADCAs into 3 different groups based on the presence or absence of associated symptoms such as brainstem signs or retinopathy. The presence of pyramidal and extrapyramidal symptoms and ophthalmoplegia makes the diagnosis of ADCA I, the presence of retinopathy points to ADCA II, and the absence of associated signs to ADCA III. Genetic linkage and molecular analyses revealed that ADCAs are genetically heterogeneous even within the various subtypes.For a general discussion of autosomal dominant spinocerebellar ataxia, see SCA1 (OMIM ).

Related symptoms:

  • Seizures
  • Ataxia
  • Nystagmus
  • Cognitive impairment
  • Hyperreflexia


SOURCES: OMIM MENDELIAN

More info about SPINOCEREBELLAR ATAXIA 10; SCA10

Top 5 symptoms//phenotypes associated to Dysarthria and Urinary incontinence

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

Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases

Cerebellar atrophy Gait ataxia Limb ataxia Tremor Dementia Progressive cerebellar ataxia Encephalopathy Depressivity Dysdiadochokinesis Hallucinations Abnormal pyramidal sign Nystagmus Babinski sign Anxiety Dysmetria Urinary urgency Spasticity

Rare Symptoms - Less than 30% cases

Hemiparesis Decreased nerve conduction velocity Hyporeflexia Difficulty walking Ophthalmoplegia Postural instability Dystonia Unsteady gait Focal-onset seizure Parkinsonism Apraxia Polyneuropathy Global developmental delay Generalized hypotonia Cognitive impairment Delayed speech and language development Peripheral neuropathy Delusions Developmental regression EEG abnormality Paranoia Personality changes Spastic tetraparesis Behavioral abnormality Myoclonus Mutism Abnormality of extrapyramidal motor function Neuronal loss in central nervous system Neurodegeneration Gait disturbance Gliosis Generalized myoclonic seizures Impulsivity EMG abnormality Back pain Impaired vibration sensation in the lower limbs Agoraphobia Progressive spasticity Progressive spastic paraplegia Urinary bladder sphincter dysfunction Clonus Muscle cramps Spastic gait Lower limb spasticity Degeneration of the lateral corticospinal tracts Lower limb muscle weakness Paraplegia Spastic paraplegia Arthralgia Pes cavus Pain Spastic hemiparesis CNS demyelination Motor deterioration Loss of speech Abnormality of the periventricular white matter Leukodystrophy Low back pain Spinal cord lesion Upper limb spasticity Resting tremor Morphological abnormality of the pyramidal tract Incoordination Intention tremor Abnormality of eye movement Retinopathy Micrographia Central hypoventilation Parkinsonism with favorable response to dopaminergic medication Shuffling gait Lewy bodies Hypoventilation Orthostatic hypotension Hypokinesia Peroneal muscle atrophy Alzheimer disease Abnormal autonomic nervous system physiology Bradykinesia Hypotension Sleep disturbance Dyskinesia Inability to walk Rigidity Abnormal lower-limb motor evoked potentials Progressive pes cavus Limb dysmetria Abnormality of the cerebrospinal fluid Tetraparesis Continuous spike and waves during slow sleep Peripheral demyelination Impaired vibration sensation at ankles Microcephaly Spastic ataxia Intellectual disability Vertical supranuclear gaze palsy Athetosis Oculomotor apraxia Lafora bodies Cerebral atrophy Aggressive behavior Abnormal cerebellum morphology Hearing impairment Cogwheel rigidity Frequent falls Impaired smooth pursuit Poor coordination Slurred speech Truncal ataxia Diplopia Broad-based gait Memory impairment Stereotypy Apathy Violent behavior Hyperorality Auditory hallucinations Abnormal facial shape Intellectual disability, severe Confusion Language impairment Falls Muscular hypotonia Muscle weakness Bowel incontinence EEG with centrotemporal focal spike waves Oromotor apraxia Agnosia Perisylvian polymicrogyria Speech apraxia Epileptic spasms Aphasia Dysphasia Tetraplegia Hyperactivity Status epilepticus Generalized-onset seizure Epileptic encephalopathy Febrile seizures Polymicrogyria Neurological speech impairment Attention deficit hyperactivity disorder Autistic behavior Spastic tetraplegia Intellectual disability, moderate Psychosis Autism Scanning speech


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