Hyperreflexia, and Tetraparesis

Diseases related with Hyperreflexia and Tetraparesis

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

Top matches:

Related symptoms:

  • Spasticity
  • Cognitive impairment
  • Hyperreflexia
  • Dysarthria
  • Dysphagia


SOURCES: OMIM MENDELIAN

More info about AMYOTROPHIC LATERAL SCLEROSIS, SUSCEPTIBILITY TO, 24; ALS24

Primary lateral sclerosis (PLS) is an idiopathic non-familial motor neuron disease characterized by slowly progressive upper motor neuron dysfunction leading to spasticity, mild weakness in voluntary muscle movement, hyperreflexia, and loss of motor speech production.

PRIMARY LATERAL SCLEROSIS Is also known as pls, adult|adult-onset primary lateral sclerosis|adult-onset pls|pls|plsa

Related symptoms:

  • Muscle weakness
  • Spasticity
  • Peripheral neuropathy
  • Hyperreflexia
  • Dysarthria


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about PRIMARY LATERAL SCLEROSIS

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about MICROCEPHALY 15, PRIMARY, AUTOSOMAL RECESSIVE; MCPH15

Other less relevant matches:

Related symptoms:

  • Seizures
  • Generalized hypotonia
  • Spasticity
  • Hyperreflexia
  • Encephalopathy


SOURCES: OMIM MENDELIAN

More info about EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 12; EIEE12

ALZHEIMER DISEASE 3; AD Is also known as alzheimer disease, familial, 3|alzheimer disease 3, early-onset

Related symptoms:

  • Seizures
  • Ataxia
  • Spasticity
  • Cognitive impairment
  • Dysarthria


SOURCES: OMIM MENDELIAN

More info about ALZHEIMER DISEASE 3; AD

Autosomal dominant spastic paraplegia type 31 (SPG31) is a type of hereditary spastic paraplegia usually characterized by a pure phenotype of proximal weakness of the lower extremities with spastic gait and brisk reflexes, with a bimodal age of onset of either childhood or adulthood (>30 years). In some cases, it can present as a complex phenotype with additional associated manifestations including peripheral neuropathy, bulbar palsy (with dysarthria and dysphagia), distal amyotrophy, and impaired distal vibration sense.

AUTOSOMAL DOMINANT SPASTIC PARAPLEGIA TYPE 31 Is also known as spg31

Related symptoms:

  • Spasticity
  • Hyperreflexia
  • Dysarthria
  • Skeletal muscle atrophy
  • Gait disturbance


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about AUTOSOMAL DOMINANT SPASTIC PARAPLEGIA TYPE 31

METACHROMATIC LEUKODYSTROPHY DUE TO SAPOSIN B DEFICIENCY Is also known as saposin b deficiency|metachromatic leukodystrophy due to cerebroside sulfatase activator deficiency

Related symptoms:

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Muscle weakness
  • Muscular hypotonia


SOURCES: MESH OMIM MENDELIAN

More info about METACHROMATIC LEUKODYSTROPHY DUE TO SAPOSIN B DEFICIENCY

Mitochondrial complex III deficiency, nuclear type 8, is an autosomal recessive disorder characterized by progressive neurodegeneration with onset in childhood. Affected individuals may have normal or delayed early development, and often have episodic acute neurologic decompensation and regression associated with febrile illnesses. The developmental regression results in variable intellectual disability and motor deficits, such as hypotonia, axial hypertonia, and spasticity; some patients may lose the ability to walk independently. Laboratory studies show increased serum lactate and isolated deficiency of mitochondrial complex III in skeletal muscle and fibroblasts. Brain imaging shows a characteristic pattern of multifocal small cystic lesions in the periventricular and deep cerebral white matter (summary by Dallabona et al., 2016).For a discussion of genetic heterogeneity of mitochondrial complex III deficiency, see MC3DN1 (OMIM ).

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 8; MC3DN8

Gamma-aminobutyric acid transaminase (GABA-T) deficiency is an extremely rare disorder of GABA metabolism characterized by a severe neonatal-infantile epileptic encephalopathy (manifesting with symptoms such as seizures, hypotonia, hyperreflexia and developmental delay) and growth acceleration.

GAMMA-AMINOBUTYRIC ACID TRANSAMINASE DEFICIENCY Is also known as gaba transaminase deficiency

Related symptoms:

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Hyperreflexia
  • Downslanted palpebral fissures


SOURCES: ORPHANET OMIM MENDELIAN

More info about GAMMA-AMINOBUTYRIC ACID TRANSAMINASE DEFICIENCY

IECEE3 is an autosomal dominant neurologic disorder characterized by delayed psychomotor development, early-onset refractory seizures, and intellectual disability. The severity of the phenotype is highly variable: some patients may be nonverbal and nonambulatory with spastic quadriparesis and poor eye contact, whereas others have moderate intellectual disability (summary by Fassio et al., 2018).For a discussion of genetic heterogeneity of IECEE, see IECEE1 (OMIM ).

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about EPILEPTIC ENCEPHALOPATHY, INFANTILE OR EARLY CHILDHOOD, 3; IECEE3

Top 5 symptoms//phenotypes associated to Hyperreflexia and Tetraparesis

Symptoms // Phenotype % cases
Spastic tetraparesis Very Common - Between 80% and 100% cases
Spasticity Common - Between 50% and 80% cases
Generalized hypotonia Common - Between 50% and 80% cases
Dysarthria Common - Between 50% and 80% cases
Seizures Common - Between 50% and 80% cases

Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases

Dysphagia Global developmental delay Babinski sign Spastic gait Encephalopathy Absent speech Developmental regression Gait disturbance Dystonia Intellectual disability Hypsarrhythmia Hypoplasia of the corpus callosum Muscle weakness

Rare Symptoms - Less than 30% cases

Amyotrophic lateral sclerosis Spastic paraparesis Epileptic encephalopathy Bulbar signs Cerebral atrophy Lower limb hyperreflexia Ataxia Paraparesis Inability to walk Leukoencephalopathy Mental deterioration Spastic paraplegia Lethargy Ophthalmoplegia Paraplegia Myoclonus Cognitive impairment Brisk reflexes Peripheral neuropathy Cerebellar hypoplasia Abnormality of the periventricular white matter Microcephaly Hypertonia Leukodystrophy Hyporeflexia Acidosis Loss of speech Irritability Gait ataxia Dyspnea Peripheral demyelination Urinary incontinence Polyneuropathy Hemiparesis Respiratory failure Proximal lower limb amyotrophy Motor deterioration Decreased nerve conduction velocity Anemia Failure to thrive Neurodegeneration Nystagmus Muscular hypotonia Spastic hemiparesis CNS demyelination Lactic acidosis Agenesis of corpus callosum Increased serum lactate Severe muscular hypotonia Poor eye contact CNS hypomyelination Febrile seizures Iris coloboma Hypermetropia Coloboma Cerebellar atrophy Optic atrophy Cryptorchidism Abnormal facial shape High-pitched cry Multifocal epileptiform discharges Posterior fossa cyst Abnormal cortical gyration Tall stature Optic disc pallor Choreoathetosis Esotropia Abnormality of movement Severe global developmental delay EEG abnormality Retrognathia Hand muscle weakness Respiratory distress Downslanted palpebral fissures Stridor Failure to thrive in infancy External ophthalmoplegia Exotropia Progressive neurologic deterioration Hyperreflexia in upper limbs Shuffling gait Proximal muscle weakness in lower limbs Progressive microcephaly Cerebral cortical atrophy Dementia Headache Eyelid fasciculation Epileptic spasms Drooling Generalized-onset seizure Cyanosis Focal-onset seizure Muscular hypotonia of the trunk Cerebral white matter hypoplasia Hypoplasia of the brainstem Upslanted palpebral fissure Abnormality of the cerebral white matter Intellectual disability, severe Ventriculomegaly Talipes equinovarus Abnormal nerve conduction velocity Abnormal upper motor neuron morphology Degeneration of the lateral corticospinal tracts Spastic dysarthria Muscle stiffness Clumsiness Peripheral axonal neuropathy Confusion Abnormal lower motor neuron morphology Respiratory insufficiency Rigidity Brain atrophy Impaired proprioception Anarthria Difficulty running Ankle clonus Urinary urgency Small hand Distal sensory impairment Lower limb muscle weakness Difficulty walking Pes cavus Skeletal muscle atrophy Optic ataxia Limb apraxia Agnosia Dyscalculia Dysgraphia Memory impairment Primitive reflex Lewy bodies Frontotemporal dementia Delusions Neurofibrillary tangles Dysphasia Alzheimer disease Personality changes Mutism Psychosis Apraxia Abnormality of extrapyramidal motor function Neuronal loss in central nervous system Delayed ability to walk


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