Intellectual disability, and Parkinsonism

Diseases related with Intellectual disability and Parkinsonism

In the following list you will find some of the most common rare diseases related to Intellectual disability and Parkinsonism that can help you solving undiagnosed cases.

Top matches:

Autosomal dominant striatal degeneration-2 is a neurologic disorder characterized by hyperkinetic movements, mainly chorea, resulting from dysfunction of the basal ganglia. Although symptoms appear in the first decade, the disorder is not progressive (summary by Mencacci et al., 2016).For a discussion of genetic heterogeneity of ADSD, see ADSD1 (OMIM ).

Related symptoms:

  • Intellectual disability
  • Dementia
  • Anxiety
  • Mental deterioration
  • Parkinsonism


SOURCES: OMIM ORPHANET MENDELIAN

More info about CHILDHOOD-ONSET BENIGN CHOREA WITH STRIATAL INVOLVEMENT

Parkinson disease-17 is an autosomal dominant, adult-onset form of the disorder. It is phenotypically similar to idiopathic Parkinson disease (summary by Wider et al., 2008).For a general phenotypic description and a discussion of genetic heterogeneity of Parkinson disease (PD), see {168600}.

Related symptoms:

  • Intellectual disability
  • Tremor
  • Dystonia
  • Hyperhidrosis
  • Rigidity


SOURCES: OMIM MENDELIAN

More info about PARKINSON DISEASE 17; PARK17

Alternating hemiplegia of childhood is a rare syndrome characterized by infantile onset of episodic hemi-or quadriplegia. Most cases are accompanied by dystonic posturing, choreoathetoid movements, abnormal ocular movements, developmental delay, and progressive cognitive impairment (summary by Heinzen et al., 2012).For discussion of genetic heterogeneity of alternating hemiplegia of childhood, see AHC1 (OMIM ).

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about ALTERNATING HEMIPLEGIA OF CHILDHOOD 2; AHC2

Other less relevant matches:

Spinocerebellar ataxia type 21 (SCA21) is a very rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term). It is characterized by slowly progressive cerebellar ataxia, mild cognitive impairment, postural and/or resting tremor, bradykinesia, and rigidity.

SPINOCEREBELLAR ATAXIA TYPE 21 Is also known as sca21

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Ataxia
  • Nystagmus
  • Neoplasm


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about SPINOCEREBELLAR ATAXIA TYPE 21

Mild non-BH4-deficient hyperphenylalaninemia (HPANBH4) is an autosomal recessive disorder characterized by increased serum phenylalanine usually detected by newborn screening and associated with highly variable neurologic defects, including movement abnormalities and intellectual disability. Laboratory analysis shows dopamine and serotonin deficiencies in the cerebrospinal fluid, and normal BH4 metabolism. Evidence suggests that treatment with neurotransmitter precursors can lead to clinical improvement or even prevent the neurologic defects if started in infancy (summary by Anikster et al., 2017).

HYPERPHENYLALANINEMIA DUE TO DNAJC12 DEFICIENCY Is also known as non-phenylketonuric non-bh4-deficiency hyperphenylalaninemia

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about HYPERPHENYLALANINEMIA DUE TO DNAJC12 DEFICIENCY

Early-onset parkinsonism with intellectual deficit is a basal ganglia disorder characterised by parkinsonian-type symptoms (postural changes, tremor, rigidity), megalencephaly and variable intellectual deficit. Other signs are frontal bossing, persistent frontal lobe reflexes, strabismus and seizures. It has been described in three generations of one family. Transmission is X-linked, and the gene is located on chromosomal region Xq27.3-qter.

EARLY-ONSET PARKINSONISM-INTELLECTUAL DISABILITY SYNDROME Is also known as basal ganglion disorder with mental retardation|bgmr|waisman syndrome|parkinsonism, early-onset, with mental retardation|laxova-opitz syndrome|wsn

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Strabismus
  • Cognitive impairment


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about EARLY-ONSET PARKINSONISM-INTELLECTUAL DISABILITY SYNDROME

Parkinson disease-19A is an autosomal recessive neurodegenerative disorder characterized by onset of parkinsonism in the first or second decade. Some patients may have additional neurologic features, including mental retardation and seizures (summary by Edvardson et al., 2012 and Koroglu et al., 2013).Parkinson disease-19B is an autosomal recessive neurodegenerative disorder with onset of parkinsonism between the third and fifth decades. It is slowly progressive, shows features similar to classic late-onset Parkinson disease (PD), and has a beneficial response to dopaminergic therapy (Olgiati et al., 2016).For a phenotypic description and a discussion of genetic heterogeneity of Parkinson disease, see PD (OMIM ).

PARKINSON DISEASE 19A, JUVENILE-ONSET; PARK19A Is also known as park19, formerly

Related symptoms:

  • Intellectual disability
  • Seizures
  • Spasticity
  • Cognitive impairment
  • Hyperreflexia


SOURCES: OMIM MENDELIAN

More info about PARKINSON DISEASE 19A, JUVENILE-ONSET; PARK19A

Alzheimer disease is the most common form of progressive dementia in the elderly. It is a neurodegenerative disorder characterized by the neuropathologic findings of intracellular neurofibrillary tangles (NFT) and extracellular amyloid plaques that accumulate in vulnerable brain regions (Sennvik et al., 2000). Terry and Davies (1980) pointed out that the 'presenile' form, with onset before age 65, is identical to the most common form of late-onset or 'senile' dementia, and suggested the term 'senile dementia of the Alzheimer type' (SDAT).Haines (1991) reviewed the genetics of AD. Selkoe (1996) reviewed the pathophysiology, chromosomal loci, and pathogenetic mechanisms of Alzheimer disease. Theuns and Van Broeckhoven (2000) reviewed the transcriptional regulation of the genes involved in Alzheimer disease. Genetic Heterogeneity of Alzheimer DiseaseAlzheimer disease is a genetically heterogeneous disorder. See also AD2 (OMIM ), associated with the APOE*4 allele (OMIM ) on chromosome 19; AD3 (OMIM ), caused by mutation in the presenilin-1 gene (PSEN1 ) on 14q; and AD4 (OMIM ), caused by mutation in the PSEN2 gene (OMIM ) on 1q31.There is evidence for additional AD loci on other chromosomes; see AD5 (OMIM ) on 12p11, AD6 (OMIM ) on 10q24, AD7 (OMIM ) on 10p13, AD8 (OMIM ) on 20p, AD9 (OMIM ), associated with variation in the ABCA7 gene (OMIM ) on 19p13, AD10 (OMIM ) on 7q36, AD11 (OMIM ) on 9q22, AD12 (OMIM ) on 8p12-q22, AD13 (OMIM ) on 1q21, AD14 (OMIM ) on 1q25, AD15 (OMIM ) on 3q22-q24, AD16 (OMIM ) on Xq21.3, AD17 (OMIM ) on 6p21.2, and AD18 (OMIM ), associated with variation in the ADAM10 gene (OMIM ) on 15q21.Evidence also suggests that mitochondrial DNA polymorphisms may be risk factors in Alzheimer disease (OMIM ).Finally, there have been associations between AD and various polymorphisms in other genes, including alpha-2-macroglobulin (A2M; {103950.0005}), low density lipoprotein-related protein-1 (LRP1 ), the transferrin gene (TF ), the hemochromatosis gene (HFE ), the NOS3 gene (OMIM ), the vascular endothelial growth factor gene (VEGF ), the ABCA2 gene (OMIM ), and the TNF gene (OMIM ) (see MOLECULAR GENETICS).

ALZHEIMER DISEASE; AD Is also known as presenile and senile dementia

Related symptoms:

  • Intellectual disability
  • Seizures
  • Spasticity
  • Cognitive impairment
  • Edema


SOURCES: OMIM MENDELIAN

More info about ALZHEIMER DISEASE; AD

Medium match DYSTONIA 16

Dystonia 16 (DYT16) is a very rare and newly discovered movement disorder which is characterized by early-onset progressive limb dystonia, laryngeal and oromandibular dystonia, and parkinsonism.

DYSTONIA 16 Is also known as dyt16|early-onset dystonia parkinsonism

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Pain
  • Cognitive impairment
  • Delayed speech and language development


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about DYSTONIA 16

Early-onset autosomal dominant Alzheimer disease (EOAD) is a progressive dementia with reduction of cognitive functions. EOAD presents the same phenotype as sporadic Alzheimer disease (AD) but has an early age of onset, usually before 60 years old.

EARLY-ONSET AUTOSOMAL DOMINANT ALZHEIMER DISEASE Is also known as early-onset familial autosomal dominant alzheimer disease|eofad|familial alzheimer disease

Related symptoms:

  • Intellectual disability
  • Seizures
  • Ataxia
  • Hypertonia
  • Dementia


SOURCES: ORPHANET MENDELIAN

More info about EARLY-ONSET AUTOSOMAL DOMINANT ALZHEIMER DISEASE

Top 5 symptoms//phenotypes associated to Intellectual disability and Parkinsonism

Symptoms // Phenotype % cases
Rigidity Common - Between 50% and 80% cases
Cognitive impairment Common - Between 50% and 80% cases
Seizures Common - Between 50% and 80% cases
Dysarthria Uncommon - Between 30% and 50% cases
Global developmental delay Uncommon - Between 30% and 50% cases

Other less frequent symptoms

Patients with Intellectual disability and Parkinsonism. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases

Bradykinesia Tremor Dystonia Resting tremor Dementia Dyskinesia Akinesia Nystagmus Delayed speech and language development Memory impairment Lewy bodies Ataxia Mental deterioration

Rare Symptoms - Less than 30% cases

Language impairment Aggressive behavior Abnormality of extrapyramidal motor function Postural tremor Cogwheel rigidity Dysgraphia Neurofibrillary tangles Alzheimer disease Myoclonus Shuffling gait Stroke Hypertonia Encephalopathy Abnormal pyramidal sign Brain atrophy Choreoathetosis Hallucinations Hypomimic face Hyperreflexia Spasticity Anxiety Chorea Abnormality of movement Generalized hypotonia Generalized-onset seizure Postural instability Facial grimacing Anarthria Neuronal loss in central nervous system Aphasia Neurodegeneration Disinhibition Abnormality of higher mental function Edema Hypometric saccades Abnormal social behavior Abnormality of vision Visual hallucinations Global brain atrophy Neurodevelopmental abnormality Psychosis Semantic dementia Inability to walk Deposits immunoreactive to beta-amyloid protein Intellectual disability, moderate Agitation Apraxia Oculomotor apraxia Cerebral cortical atrophy Lower limb pain Laryngeal dystonia Orofacial dyskinesia Morphological abnormality of the pyramidal tract Retrocollis Limb dystonia Dysphonia Ischemic stroke Torticollis Involuntary movements Unsteady gait Limb pain Dysphagia Confusion Gait disturbance Motor delay Pain Decreased level of GABA in serum Long-tract signs Cerebral amyloid angiopathy Stroke-like episode Senile plaques Generalized dystonia Obesity Megalencephaly Migraine Behavioral abnormality Cerebellar atrophy Intellectual disability, severe Neoplasm Episodic quadriplegia Loss of consciousness Hemiplegia Abnormal autonomic nervous system physiology Hemiparesis Tetraparesis Status epilepticus Tetraplegia Babinski sign Abnormality of eye movement Generalized tonic-clonic seizures Abnormality of the eye Depressivity Headache Schizophrenia Hyperhidrosis Striatal T2 hyperintensity Abnormal corpus striatum morphology Parkinsonism with favorable response to dopaminergic medication Delayed gross motor development Hyporeflexia Gait ataxia Slurred speech Muscular hypotonia of the trunk Cerebral calcification Poor speech Neurological speech impairment Frontal bossing Macrocephaly Strabismus Hyperphenylalaninemia Oculogyric crisis Limb hypertonia Broad-based gait Attention deficit hyperactivity disorder Intellectual disability, mild Ophthalmoplegia Microsaccadic pursuit Intermittent microsaccadic pursuits Scanning speech Slow saccadic eye movements Cerebellar vermis atrophy Impulsivity Apathy Fasciculations Diplopia Limb ataxia Clumsiness Progressive cerebellar ataxia Finger agnosia


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