Hyperreflexia, and Abnormality of extrapyramidal motor function

Diseases related with Hyperreflexia and Abnormality of extrapyramidal motor function

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

Top matches:

Related symptoms:

  • Hyperreflexia
  • Tremor
  • Gait disturbance
  • Depressivity
  • Rigidity


SOURCES: OMIM MENDELIAN

More info about PARKINSON DISEASE 22, AUTOSOMAL DOMINANT; PARK22

Guanidinoacetate methyltransferase (GAMT) deficiency is a creatine deficiency syndrome characterized by global developmental delay/intellectual disability (DD/ID), prominent speech delay, autistic/hyperactive behavioral disorders, seizures, and various types of pyramidal and/or extra-pyramidal manifestations.

GUANIDINOACETATE METHYLTRANSFERASE DEFICIENCY Is also known as gamt deficiency|creatine deficiency syndrome due to gamt deficiency|guanidinoacetate methyltransferase deficiency

Related symptoms:

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


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about GUANIDINOACETATE METHYLTRANSFERASE DEFICIENCY

Related symptoms:

  • Global developmental delay
  • Generalized hypotonia
  • Ataxia
  • Hyperreflexia
  • Intellectual disability, severe


SOURCES: OMIM MENDELIAN

More info about MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 4; MC3DN4

Other less relevant matches:

Parkinson disease-23 is a progressive neurodegenerative disorder characterized by young-adult onset of parkinsonism associated with progressive cognitive impairment leading to dementia and dysautonomia. Some individuals have additional motor abnormalities. Affected individuals become severely disabled within a few decades (summary by Lesage et al., 2016).

Related symptoms:

  • Spasticity
  • Cognitive impairment
  • Hyperreflexia
  • Tremor
  • Cerebral atrophy


SOURCES: OMIM MENDELIAN

More info about PARKINSON DISEASE 23, AUTOSOMAL RECESSIVE EARLY-ONSET; PARK23

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

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

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

Low 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

Related symptoms:

  • Hyperreflexia
  • Dysarthria
  • Tremor
  • Dementia
  • Kyphoscoliosis


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about PARKINSON-DEMENTIA SYNDROME

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

Top 5 symptoms//phenotypes associated to Hyperreflexia and Abnormality of extrapyramidal motor function

Symptoms // Phenotype % cases
Tremor Common - Between 50% and 80% cases
Rigidity Common - Between 50% and 80% cases
Bradykinesia Common - Between 50% and 80% cases
Ataxia Uncommon - Between 30% and 50% cases
Parkinsonism Uncommon - Between 30% and 50% cases

Other less frequent symptoms

Patients with Hyperreflexia and Abnormality of extrapyramidal motor function. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases

Dementia Abnormal pyramidal sign Dysarthria Neuronal loss in central nervous system Mental deterioration Cerebellar atrophy Cerebral atrophy Generalized hypotonia Seizures Cognitive impairment Resting tremor Gait disturbance

Rare Symptoms - Less than 30% cases

Spasticity Neurofibrillary tangles Hyperactive deep tendon reflexes Lewy bodies Diffuse cerebral atrophy Hypokinesia Alzheimer disease Dyskinesia Intention tremor Babinski sign Postural tremor Muscular hypotonia of the trunk Tremor by anatomical site Intellectual disability, severe Depressivity Kinetic tremor Abnormality of movement Global developmental delay Myoclonus Behavioral abnormality Postural instability Dilation of lateral ventricles Ankle clonus Laryngeal dystonia Mask-like facies Downbeat nystagmus Gaze-evoked nystagmus Spastic paraparesis Upper limb postural tremor Paraparesis Hypermetric saccades Cogwheel rigidity Dysphonia Falls Morphological abnormality of the pyramidal tract Abnormality of eye movement Limb dysmetria Ophthalmoparesis Frontal release signs Primitive reflex Senile plaques Inappropriate behavior Scissor gait Emotional lability Gait ataxia Personality changes Vertigo Cerebral calcification Focal-onset seizure Dilated third ventricle Kyphoscoliosis Hyperkinesis Poor fine motor coordination Absence seizures Severe global developmental delay Absent speech Dystonia Progressive extrapyramidal movement disorder Self-mutilation Infantile muscular hypotonia Involuntary movements Increased serum lactate Intellectual disability, profound Autistic behavior Hyperactivity Hypertonia Delayed speech and language development Muscular hypotonia Intellectual disability Inability to walk Athetosis Action tremor Lower limb hyperreflexia Sensorimotor neuropathy Abnormal cerebellum morphology Unsteady gait Symmetric lesions of the basal ganglia Degeneration of the striatum Abnormality of the basal ganglia Dysdiadochokinesis Restlessness Slurred speech Dysphagia Limb dystonia Akinesia Abnormal autonomic nervous system physiology Neurodegeneration Cerebral cortical atrophy Isometric tremor


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