Hyperreflexia, and Dyskinesia

Diseases related with Hyperreflexia and Dyskinesia

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

Top matches:

X-linked parkinsonism-spasticity syndrome is a rare genetic neurological disorder characterized by parkinsonian features (including resting or action tremor, cogwheel rigidity, hypomimia and bradykinesia) associated with variably penetrant spasticity, hyperactive deep tendon reflexes and Babinski sign.

X-LINKED PARKINSONISM-SPASTICITY SYNDROME Is also known as xpds

Related symptoms:

  • Seizures
  • Spasticity
  • Hyperreflexia
  • Tremor
  • Babinski sign


SOURCES: ORPHANET OMIM MENDELIAN

More info about X-LINKED PARKINSONISM-SPASTICITY SYNDROME

Medium match CLN13 DISEASE

Neuronal ceroid lipofuscinosis-13 is an autosomal recessive neurodegenerative disorder characterized by adult onset of progressive cognitive decline and motor dysfunction leading to dementia and often early death. Some patients develop seizures. Neurons show abnormal accumulation of autofluorescent material (summary by Smith et al., 2013).Adult-onset neuronal ceroid lipofuscinosis is sometimes referred to as Kufs disease.For a discussion of genetic heterogeneity of neuronal ceroid lipofuscinosis (CLN), see CLN1 (OMIM ).

CLN13 DISEASE Is also known as ceroid lipofuscinosis, neuronal, 13, kufs type

Related symptoms:

  • Seizures
  • Generalized hypotonia
  • Ataxia
  • Cognitive impairment
  • Hyperreflexia


SOURCES: OMIM ORPHANET MENDELIAN

More info about CLN13 DISEASE

Dystonia-9 is an autosomal dominant neurologic disorder characterized by childhood onset of paroxysmal choreoathetosis and progressive spastic paraplegia. Most show some degree of cognitive impairment. Other variable features may include seizures, migraine headaches, and ataxia (summary by Weber et al., 2011).

PAROXYSMAL DYSTONIC CHOREATHETOSIS WITH EPISODIC ATAXIA AND SPASTICITY Is also known as dyt9|cse choreoathetosis, paroxysmal, with episodic ataxia|episodic choreoathetosis/spasticity|choreoathetosis, kinesigenic, with episodic ataxia and spasticity|choreoathetosis/spasticity, episodic

Related symptoms:

  • Intellectual disability
  • Seizures
  • Ataxia
  • Spasticity
  • Cognitive impairment


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about PAROXYSMAL DYSTONIC CHOREATHETOSIS WITH EPISODIC ATAXIA AND SPASTICITY

Other less relevant matches:

Familial dyskinesia and facial myokymia is a rare paroxysmal movement disorder, with childhood or adolescent onset, characterized by paroxysmal choreiform, dystonic, and myoclonic movements involving the limbs (mostly distal upper limbs), neck and/or face, which can progressively increase in both frequency and severity until they become nearly constant. Patients may also present with delayed motor milestones, perioral and periorbital dyskinesias, dysarthria, hypotonia, and weakness.

FAMILIAL DYSKINESIA AND FACIAL MYOKYMIA Is also known as fdfm

Related symptoms:

  • Intellectual disability
  • Generalized hypotonia
  • Motor delay
  • Hyperreflexia
  • Dysarthria


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about FAMILIAL DYSKINESIA AND FACIAL MYOKYMIA

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

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

PARKINSON DISEASE 6, AUTOSOMAL RECESSIVE EARLY-ONSET; PARK6 Is also known as parkinson disease 6, early-onset|park6

Related symptoms:

  • Pain
  • Cognitive impairment
  • Hyperreflexia
  • Tremor
  • Behavioral abnormality


SOURCES: OMIM MESH MENDELIAN

More info about PARKINSON DISEASE 6, AUTOSOMAL RECESSIVE EARLY-ONSET; PARK6

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

PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE; PARK2 Is also known as pdj|parkinson disease, juvenile, autosomal recessive|parkinsonism, early-onset, with diurnal fluctuation|epdf

Related symptoms:

  • Neoplasm
  • Peripheral neuropathy
  • Hyperreflexia
  • Tremor
  • Gait disturbance


SOURCES: OMIM MENDELIAN

More info about PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE; PARK2

Medium match MEPAN SYNDROME

Childhood-onset dystonia with optic atrophy and basal ganglia abnormalities is an autosomal recessive neurologic disorder characterized by onset of involuntary movements in the first decade of life. Optic atrophy develops around the same time or slightly later. Severity is variable, and some patients lose independent ambulation. Brain imaging shows abnormalities in the basal ganglia. Cognition appears to be unaffected (summary by Heimer et al., 2016).

MEPAN SYNDROME Is also known as childhood-onset generalized dystonia-optic atrophy syndrome|dystonia 29|dyt29|autosomal recessive childhood-onset dystonia, dyt29 type|dystonia 29, childhood-onset|mitochondrial enoyl coa reductase protein-associated neurodegeneration syndrome

Related symptoms:

  • Seizures
  • Ataxia
  • Nystagmus
  • Spasticity
  • Visual impairment


SOURCES: OMIM ORPHANET MENDELIAN

More info about MEPAN SYNDROME

Top 5 symptoms//phenotypes associated to Hyperreflexia and Dyskinesia

Symptoms // Phenotype % cases
Dystonia Common - Between 50% and 80% cases
Tremor Common - Between 50% and 80% cases
Rigidity Common - Between 50% and 80% cases
Dysarthria Common - Between 50% and 80% cases
Cognitive impairment Uncommon - Between 30% and 50% cases

Other less frequent symptoms

Patients with Hyperreflexia and Dyskinesia. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases

Gait disturbance Seizures Neuronal loss in central nervous system Parkinsonism Bradykinesia Involuntary movements Abnormal pyramidal sign Spasticity Intellectual disability Myoclonus Dementia Postural instability Babinski sign Resting tremor Orofacial dyskinesia Alzheimer disease Akinesia Ataxia Motor delay

Rare Symptoms - Less than 30% cases

Paraparesis Paroxysmal dyskinesia Difficulty walking Anxiety Abnormality of movement Chorea Cogwheel rigidity Dysphagia Spastic paraparesis Lewy bodies Gliosis Global brain atrophy Pain Senile plaques Hypomimic face Psychosis Choreoathetosis Morphological abnormality of the pyramidal tract Mental deterioration Diffuse cerebral atrophy Personality changes Postural tremor Muscular hypotonia of the trunk Frontal release signs Depressivity Cerebral atrophy Generalized hypotonia Shuffling gait Urinary urgency Generalized-onset seizure Global developmental delay Nystagmus Hallucinations Parkinsonism with favorable response to dopaminergic medication Reduced visual acuity Orthostatic hypotension Abnormal autonomic nervous system physiology Hypometric saccades Hypotension Optic atrophy Delayed speech and language development Behavioral abnormality Substantia nigra gliosis Anarthria Visual hallucinations Abnormal cerebellum morphology Neurofibrillary tangles Olivopontocerebellar atrophy Lower limb pain Respiratory failure Diabetes mellitus Peripheral neuropathy Inability to walk Neoplasm Retrocollis Abnormality of eye movement Abnormality of the eye Limb pain Facial grimacing Laryngeal dystonia Stroke Generalized dystonia Visual impairment Limb dystonia Language impairment Impaired vibratory sensation Dysphonia Ischemic stroke Torticollis Sensory axonal neuropathy Unsteady gait Peripheral axonal neuropathy Brain atrophy Cerebral cortical atrophy Intellectual disability, moderate Spastic paraplegia Progressive spastic paraparesis Episodic ataxia Progressive spastic paraplegia Brisk reflexes Clonus Diplopia Dehydration Migraine Paresthesia Paraplegia Generalized tonic-clonic seizures Headache Cardiomyopathy Primitive reflex Emotional lability Abnormality of extrapyramidal motor function Focal-onset seizure Cerebellar atrophy Dilated third ventricle Scissor gait Dilation of lateral ventricles Hyperactive deep tendon reflexes Ankle clonus Mask-like facies Paroxysmal choreoathetosis Congestive heart failure Encephalopathy Restlessness Lack of insight Frontal cortical atrophy Hyperorality Dyscalculia Perseveration Inappropriate behavior Dysgraphia Disinhibition Astrocytosis Frontotemporal dementia Loss of speech Apathy Hypertonia Mutism Stereotypy Memory impairment Urinary incontinence Confusion Aggressive behavior Facial myokymia Myokymia Limb hypertonia Delayed gross motor development Dilated cardiomyopathy Craniofacial dystonia


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