Ataxia, and Bradykinesia

Diseases related with Ataxia and Bradykinesia

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


Top matches:

Medium match AUTOSOMAL DOMINANT STRIATAL NEURODEGENERATION


Autosomal dominant striatal degeneration (ADSD) is an adult-onset movement disorder characterized by bradykinesia, dysarthria and muscle rigidity.

AUTOSOMAL DOMINANT STRIATAL NEURODEGENERATION Is also known as adsd

Related symptoms:

  • Dysarthria
  • Tremor
  • Gait disturbance
  • Dysphagia
  • Rigidity


SOURCES: OMIM ORPHANET MENDELIAN

More info about AUTOSOMAL DOMINANT STRIATAL NEURODEGENERATION

Medium match SPINOCEREBELLAR ATAXIA TYPE 12


Spinocerebellar ataxia type 12 (SCA12) is a very rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term). It is characterized by the presence of action tremor associated with relatively mild cerebellar ataxia. Associated pyramidal and extrapyramidal signs and dementia have been reported.

SPINOCEREBELLAR ATAXIA TYPE 12 Is also known as sca12

Related symptoms:

  • Ataxia
  • Cognitive impairment
  • Hyperreflexia
  • Gait disturbance
  • Cerebellar atrophy


SOURCES: ORPHANET MENDELIAN

More info about SPINOCEREBELLAR ATAXIA TYPE 12

Medium match DEVELOPMENTAL DELAY AND SEIZURES WITH OR WITHOUT MOVEMENT ABNORMALITIES; DEDSM


DEDSM is a neurodevelopmental disorder characterized by global developmental delay, variable intellectual disability, and early-onset seizures with a myoclonic component. Most patients have delayed motor development and show abnormal movements, including ataxia, dystonia, and tremor (summary by Hamdan et al., 2017).

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Generalized hypotonia


SOURCES: OMIM MENDELIAN

More info about DEVELOPMENTAL DELAY AND SEIZURES WITH OR WITHOUT MOVEMENT ABNORMALITIES; DEDSM

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Other less relevant matches:

Medium match SPINOCEREBELLAR ATAXIA TYPE 20


Spinocerebellar ataxia type 20 (SCA20) is a very rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term). It is characterized by cerebellar dysarthria as the initial typical manifestation.

SPINOCEREBELLAR ATAXIA TYPE 20 Is also known as sca20

Related symptoms:

  • Ataxia
  • Hyperreflexia
  • Dysarthria
  • Cerebellar atrophy
  • Gait ataxia


SOURCES: ORPHANET MENDELIAN

More info about SPINOCEREBELLAR ATAXIA TYPE 20

Medium match ATYPICAL JUVENILE PARKINSONISM


Atypical juvenile parkinsonism (AJP) is a complex form of young-onset Parkinson disease (YOPD; see this term) that manifests with pyramidal signs, eye movement abnormalities, psychiatric manifestations (depression, anxiety, drug-induced psychosis, and impulse control disorders), intellectual disability, and other neurological symptoms (such as ataxia and epilepsy) along with classical parkinsonian symptoms.

Related symptoms:

  • Intellectual disability
  • Seizures
  • Scoliosis
  • Fatigue
  • Dystonia


SOURCES: ORPHANET MENDELIAN

More info about ATYPICAL JUVENILE PARKINSONISM

Medium match HUNTINGTON DISEASE-LIKE 2


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

Medium match 6-PYRUVOYL-TETRAHYDROPTERIN SYNTHASE DEFICIENCY


6-pyruvoyl-tetrahydropterin synthase (PTPS) deficiency is one of the causes of malignant hyperphenylalaninemia due to tetrahydrobiopterin deficiency. Not only does tetrahydrobiopterin deficiency cause hyperphenylalaninemia, it is also responsible for defective neurotransmission of monoamines because of malfunctioning tyrosine and tryptophan hydroxylases, both tetrahydrobiopterin-dependent hydroxylases.

6-PYRUVOYL-TETRAHYDROPTERIN SYNTHASE DEFICIENCY Is also known as hyperphenylalaninemia due to 6-pyruvoyltetrahydropterin synthase deficiency

Related symptoms:

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


SOURCES: ORPHANET MENDELIAN

More info about 6-PYRUVOYL-TETRAHYDROPTERIN SYNTHASE DEFICIENCY

Medium match PARKINSON DISEASE, LATE-ONSET; PD


Parkinson disease was first described by James Parkinson in 1817. It is the second most common neurodegenerative disorder after Alzheimer disease (AD ), affecting approximately 1% of the population over age 50 (Polymeropoulos et al., 1996). ReviewsWarner and Schapira (2003) reviewed the genetic and environmental causes of Parkinson disease. Feany (2004) reviewed the genetics of Parkinson disease and provided a speculative model of interactions among proteins implicated in PD. Lees et al. (2009) provided a review of Parkinson disease, with emphasis on diagnosis, neuropathology, and treatment. Genetic Heterogeneity of Parkinson DiseaseSeveral loci for autosomal dominant Parkinson disease have been identified, including PARK1 (OMIM ) and PARK4, caused by mutation in or triplication of the alpha-synuclein gene (SNCA ), respectively, on 4q22; PARK5 (OMIM ), caused by mutation in the UCHL1 gene on 4p13; PARK8 (OMIM ), caused by mutation in the LRRK2 gene (OMIM ) on 12q12; PARK11 (OMIM ), caused by mutation in the GIGYF2 gene (OMIM ) on 2q37; PARK13 (OMIM ), caused by mutation in the HTRA2 gene (OMIM ) on 2p13; PARK17 (OMIM ), caused by mutation in the VPS35 gene (OMIM ) on 16q11; and PARK18 (OMIM ), caused by mutation in the EIF4G1 gene (OMIM ) on 3q27.Several loci for autosomal recessive early-onset Parkinson disease have been identified: PARK2 (OMIM ), caused by mutation in the gene encoding parkin (PARK2 ) on 6q26; PARK6 (OMIM ), caused by mutation in the PINK1 gene (OMIM ) on 1p36; PARK7 (OMIM ), caused by mutation in the DJ1 gene (PARK7 ) on 1p36; PARK14 (OMIM ), caused by mutation in the PLA2G6 gene (OMIM ) on 22q13; PARK15 (OMIM ), caused by mutation in the FBXO7 gene (OMIM ) on 22q12-q13; PARK19A (OMIM ) and PARK19B (see {615528}), caused by mutation in the DNAJC6 gene (OMIM ) on 1p32; and PARK20 (OMIM ), caused by mutation in the SYNJ1 gene (OMIM ) on 21q22.PARK3 (OMIM ) has been mapped to chromosome 2p13; PARK10 (OMIM ) has been mapped to chromosome 1p34-p32; PARK16 (OMIM ) has been mapped to chromosome 1q32. See also PARK21 (OMIM ). A locus on the X chromosome has been identified (PARK12 ). There is also evidence that mitochondrial mutations may cause or contribute to Parkinson disease (see {556500}). Susceptibility to the development of the more common late-onset form of Parkinson disease has been associated with polymorphisms or mutations in several genes, including GBA (OMIM ), MAPT (OMIM ), MC1R (OMIM ), ADH1C (OMIM ), and genes at the HLA locus (see, e.g., HLA-DRA, {142860}). Each of these risk factors independently may have a modest effect on disease development, but together may have a substantial cumulative effect (Hamza et al., 2010).Susceptibility to PD may also be conferred by expanded trinucleotide repeats in several genes causing other neurologic disorders usually characterized by spinocerebellar ataxia (SCA), including the ATXN2 (OMIM ), ATXN3 (OMIM ), TBP (OMIM ), and ATXN8OS (OMIM ) genes.

PARKINSON DISEASE, LATE-ONSET; PD Is also known as park

Related symptoms:

  • Ataxia
  • Cognitive impairment
  • Dysarthria
  • Tremor
  • Dysphagia


SOURCES: OMIM MENDELIAN

More info about PARKINSON DISEASE, LATE-ONSET; PD

Medium match RAPID-ONSET DYSTONIA-PARKINSONISM


Rapid-onset dystonia-parkinsonism (RDP) is a very rare movement disorder, characterized by the abrupt onset of parkinsonism and dystonia, often triggered by physical or psychological stress.

RAPID-ONSET DYSTONIA-PARKINSONISM Is also known as dyt12|dystonia-parkinsonism, rapid-onset|rdp|dystonia 12

Related symptoms:

  • Intellectual disability
  • Seizures
  • Generalized hypotonia
  • Ataxia
  • Motor delay


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about RAPID-ONSET DYSTONIA-PARKINSONISM

Medium match HEREDITARY DIFFUSE LEUKOENCEPHALOPATHY WITH AXONAL SPHEROIDS AND PIGMENTED GLIA


Hereditary diffuse leukoencephalopathy with axonal spheroids and pigmented glia is a rare autosomal dominant disease characterized by a complex phenotype including progressive dementia, apraxia, apathy, impaired balance, parkinsonism, spasticity and epilepsy.

HEREDITARY DIFFUSE LEUKOENCEPHALOPATHY WITH AXONAL SPHEROIDS AND PIGMENTED GLIA Is also known as dementia, familial, neumann type|adult-onset leukoencephalopathy with axonal spheroids and pigmented glia|fpsg|familial progressive subcortical gliosis|leukoencephalopathy with neuroaxonal spheroids, autosomal dominant|pold|alsp|pigmentary orthochromatic

Related symptoms:

  • Seizures
  • Ataxia
  • Spasticity
  • Cognitive impairment
  • Hyperreflexia


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about HEREDITARY DIFFUSE LEUKOENCEPHALOPATHY WITH AXONAL SPHEROIDS AND PIGMENTED GLIA

Top 5 symptoms//phenotypes associated to Ataxia and Bradykinesia

Symptoms // Phenotype % cases
Rigidity Common - Between 50% and 80% cases
Seizures Common - Between 50% and 80% cases
Parkinsonism Common - Between 50% and 80% cases
Hyperreflexia Common - Between 50% and 80% cases
Dystonia Common - Between 50% and 80% cases
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Other less frequent symptoms

Patients with Ataxia and Bradykinesia. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Dysarthria Dysphagia Tremor Depressivity Postural instability Intellectual disability Dementia Abnormal pyramidal sign Abnormality of movement Gait disturbance Resting tremor Hypomimic face Myoclonus Personality changes Neuronal loss in central nervous system Motor delay Weak voice Gait ataxia Cerebellar atrophy Cognitive impairment Behavioral abnormality

Rare Symptoms - Less than 30% cases


Unsteady gait Falls Hallucinations Memory impairment Chorea Dysphonia Neurodegeneration Kinetic tremor Mutism Anxiety Gliosis Cerebral cortical atrophy Progressive neurologic deterioration Inability to walk Brain atrophy Involuntary movements Apraxia Short stepped shuffling gait Shuffling gait Frontotemporal dementia Hypokinesia Alzheimer disease Hypertonia Tremor by anatomical site Abnormality of extrapyramidal motor function Generalized hypotonia Delayed speech and language development Fever Global developmental delay Cerebral atrophy Hyperkinesis Action tremor Oculogyric crisis Intention tremor Constipation Excessive salivation Micrographia Intellectual disability, mild Stroke Inappropriate behavior Diffuse leukoencephalopathy Urinary urgency Substantia nigra gliosis Sleep disturbance Hypotension Lewy bodies Frontal lobe dementia Abnormal autonomic nervous system physiology Mask-like facies Orthostatic hypotension Broad-based gait Progressive cerebellar ataxia Hypoplasia of the corpus callosum Insomnia Atrophy/Degeneration affecting the brainstem Neurofibrillary tangles Decreased number of peripheral myelinated nerve fibers Leukoencephalopathy Muscle stiffness Astrocytosis Leukodystrophy Peripheral demyelination Confusion Abnormality of the cerebral white matter Difficulty walking CNS demyelination Ventriculomegaly Restless legs Spasticity Retrocollis Restlessness Personality disorder Craniofacial dystonia Abnormal posturing Torsion dystonia Focal dystonia Limb dystonia Emotional lability Drooling Torticollis Senile plaques Vegetative state Drowsiness Weight loss Opisthotonus Absent speech Gaze-evoked nystagmus Cerebral calcification Vertigo Myoclonic absences Eyelid myoclonus Cortical myoclonus Myokymia Arnold-Chiari type I malformation Epileptic encephalopathy Generalized myoclonic seizures Generalized tonic-clonic seizures EEG abnormality Short stature Downbeat nystagmus Limb dysmetria Poor fine motor coordination Postural tremor Sensorimotor neuropathy Abnormal cerebellum morphology Symmetric lesions of the basal ganglia Degeneration of the striatum Abnormality of the basal ganglia Hyperactive deep tendon reflexes Lower limb hyperreflexia Dysdiadochokinesis Slurred speech Laryngeal dystonia Upper limb postural tremor Agitation Acanthocytosis Poor head control Clonus Choreoathetosis Hypsarrhythmia Pallor Ptosis Muscular hypotonia Abnormality of the cerebrum Abnormal corpus striatum morphology Caudate atrophy Functional motor deficit Primitive reflex Delusions Hypermetric saccades Apathy Irritability Slowed slurred speech Abnormality of nervous system physiology Leg muscle stiffness Anarthria Akinesia Pes cavus Hyporeflexia Fatigue Scoliosis Isometric tremor Frontal release signs



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