Hyperreflexia, and Rigidity

Diseases related with Hyperreflexia and Rigidity

In the following list you will find some of the most common rare diseases related to Hyperreflexia and Rigidity 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

Autosomal recessive spastic paraplegia type 28 is a pure form of hereditary spastic paraplegia characterized by a childhood or adolescent onset of slowly progressive, pure crural muscle spastic paraparesis which manifests with mild lower limb weakness, gait difficulties, extensor plantar responses, and hyperreflexia of lower extremities. Less common manifestations include cerebellar oculomotor disturbance with saccadic eye pursuit, pes cavus and scoliosis. Some patients also present pin and vibration sensory loss in distal legs.

AUTOSOMAL RECESSIVE SPASTIC PARAPLEGIA TYPE 28 Is also known as spg28

Related symptoms:

  • Scoliosis
  • Spasticity
  • Peripheral neuropathy
  • Hyperreflexia
  • Babinski sign


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about AUTOSOMAL RECESSIVE SPASTIC PARAPLEGIA TYPE 28

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

Other less relevant matches:

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

Autosomal spastic paraplegia type 72 is a rare, genetic, pure hereditary spastic paraplegia disorder characterized by early childhood onset of slowly progressive crural spastic paraparesis presenting with spastic gait, mild stiffness at rest, hyperreflexia (in lower limbs), extensor plantar responses and, in some, mild postural tremor, pes cavus, sphincter disturbances and sensory loss at ankles.

AUTOSOMAL SPASTIC PARAPLEGIA TYPE 72 Is also known as spg72

Related symptoms:

  • Pain
  • Spasticity
  • Hyperreflexia
  • Tremor
  • Babinski sign


SOURCES: OMIM ORPHANET MENDELIAN

More info about AUTOSOMAL SPASTIC PARAPLEGIA TYPE 72

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

Related symptoms:

  • Hyperreflexia
  • Dysarthria
  • Tremor
  • Dementia
  • Kyphoscoliosis


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about PARKINSON-DEMENTIA SYNDROME

Medium match ABRI AMYLOIDOSIS

ABri amyloidosis is a rare, neurodegenerative disease characterized by progressive cognitive impairment, spastic tetraparesis, and cerebellar ataxia resulting from amyloid deposits in the brain. Spasticity with increased deep tendon reflexes and tone are early symptoms, muscular rigidity evolves later. Progressive mental deterioration usually starts with apathy and impaired memory with progression to complete disorientation.

ABRI AMYLOIDOSIS Is also known as presenile dementia with spastic ataxia|fbd|cerebral amyloid angiopathy, british type|familial dementia, british type|dementia, familial british

Related symptoms:

  • Ataxia
  • Spasticity
  • Hyperreflexia
  • Tremor
  • Hypertonia


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about ABRI AMYLOIDOSIS

Early infantile epileptic encephalopathy-37 is an autosomal recessive severe epileptic-dyskinetic disorder characterized by onset of intractable seizures or abnormal movements in the first years of life. Affected individuals show global developmental delay and/or developmental regression after onset of seizures. Patients also show a hyperkinetic movement disorder with choreoathetosis, spasticity, and rigidity. The individuals are severely affected, with mental retardation, absent speech, and impaired volitional movements (summary by Madeo et al., 2016).For a general phenotypic description and a discussion of genetic heterogeneity of EIEE, see EIEE1 (OMIM ).

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 37; EIEE37

Top 5 symptoms//phenotypes associated to Hyperreflexia and Rigidity

Symptoms // Phenotype % cases
Tremor Very Common - Between 80% and 100% cases
Spasticity Common - Between 50% and 80% cases
Dementia Uncommon - Between 30% and 50% cases
Mental deterioration Uncommon - Between 30% and 50% cases
Bradykinesia Uncommon - Between 30% and 50% cases

Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases

Parkinsonism Neuronal loss in central nervous system Babinski sign Alzheimer disease Neurofibrillary tangles Dysarthria Cognitive impairment Cerebral atrophy Seizures Resting tremor Gait disturbance

Rare Symptoms - Less than 30% cases

Myoclonus Hyperactive deep tendon reflexes Abnormality of movement Cerebellar atrophy Lewy bodies Senile plaques Ataxia Generalized hypotonia Abnormal pyramidal sign Dyskinesia Postural tremor Diffuse cerebral atrophy Pes cavus Spastic gait Depressivity Spastic paraplegia Postural instability Paraplegia Difficulty walking Peripheral demyelination Abnormality of extrapyramidal motor function Focal-onset seizure Absent speech Muscular hypotonia of the trunk Developmental regression Encephalopathy Dilated third ventricle Scissor gait Epileptic encephalopathy Cogwheel rigidity Dilation of lateral ventricles Personality changes Primitive reflex Emotional lability Cerebral amyloid angiopathy Progressive neurologic deterioration Truncal ataxia Apathy Abnormality of the adrenal glands Inappropriate behavior Morphological abnormality of the pyramidal tract Intellectual disability Confusion Global developmental delay Ophthalmoparesis Nystagmus Falls Abnormality of eye movement Kyphoscoliosis Frontal release signs Hypertonia Memory impairment Ankle clonus Sensory impairment Abnormal autonomic nervous system physiology Neurodegeneration Cerebral cortical atrophy Abolished vibration sense Impaired tactile sensation Pain insensitivity Lower limb spasticity Distal sensory impairment Limb dystonia Peripheral axonal neuropathy Unsteady gait Lower limb muscle weakness Limb muscle weakness Peripheral neuropathy Scoliosis Kinetic tremor Akinesia Dysphagia Mask-like facies Impaired vibratory sensation Spastic paraparesis Paraparesis Abnormality of higher mental function Impaired vibration sensation at ankles Upper limb spasticity Urinary bladder sphincter dysfunction Toe walking Muscle stiffness Hyperkinesis Pain Symmetric lesions of the basal ganglia Degeneration of the striatum Abnormality of the basal ganglia Hypokinesia Lower limb hyperreflexia Dysdiadochokinesis Slurred speech Choreoathetosis


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