Hyperreflexia, and Irritability

Diseases related with Hyperreflexia and Irritability

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

Top matches:

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

HYPOGLYCEMIA, LEUCINE-INDUCED; LIH Is also known as leucine-sensitive hypoglycemia of infancy

Related symptoms:

  • Intellectual disability
  • Seizures
  • Ataxia
  • Strabismus
  • Spasticity


SOURCES: OMIM MESH MENDELIAN

More info about HYPOGLYCEMIA, LEUCINE-INDUCED; LIH

Behavioral variant of frontotemporal dementia (bv-FTD) is a form of frontotemporal dementia (FTD; see this term), characterized by progressive behavioral impairment and a decline in executive function with frontal lobe-predominant atrophy.

BEHAVIORAL VARIANT OF FRONTOTEMPORAL DEMENTIA Is also known as bv-ftd

Related symptoms:

  • Hyperreflexia
  • Gait disturbance
  • Behavioral abnormality
  • Aggressive behavior
  • Mental deterioration


SOURCES: ORPHANET MENDELIAN

More info about BEHAVIORAL VARIANT OF FRONTOTEMPORAL DEMENTIA

Other less relevant matches:

Frontotemporal dementia and/or amyotrophic lateral sclerosis-3 is an autosomal dominant neurodegenerative disorder characterized by adult or late adult onset of cognitive impairment, behavioral abnormalities, and speech apraxia and/or upper and lower motor neuron signs. Some patients may also develop Paget disease of bone. The phenotype is highly variable, even within families (summary by Rea et al., 2014).For a discussion of genetic heterogeneity of FTDALS, see FTDALS1 (OMIM ).

Related symptoms:

  • Muscle weakness
  • Cognitive impairment
  • Hyperreflexia
  • Dysarthria
  • Skeletal muscle atrophy


SOURCES: OMIM MENDELIAN

More info about FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 3; FTDALS3

ATYPICAL PANTOTHENATE KINASE-ASSOCIATED NEURODEGENERATION Is also known as neurodegeneration with brain iron accumulation type 1, atypical form|pkan, atypical form|nbia1, atypical form

Related symptoms:

  • Spasticity
  • Cognitive impairment
  • Hyperreflexia
  • Dysarthria
  • Optic atrophy


SOURCES: ORPHANET MENDELIAN

More info about ATYPICAL PANTOTHENATE KINASE-ASSOCIATED NEURODEGENERATION

PCH2D is an autosomal recessive disorder characterized by progressive microcephaly, postnatal onset of progressive atrophy of the cerebrum and cerebellum, profound mental retardation, spasticity, and variable seizures (summary by Ben-Zeev et al., 2003).For a general phenotypic description and a discussion of genetic heterogeneity of pontocerebellar hypoplasia type 2, see PCH2A (OMIM ).

PONTOCEREBELLAR HYPOPLASIA, TYPE 2D; PCH2D Is also known as pcca|cerebellocerebral atrophy, progressive

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Microcephaly
  • Ataxia


SOURCES: OMIM MENDELIAN

More info about PONTOCEREBELLAR HYPOPLASIA, TYPE 2D; PCH2D

Spastic tetraplegia, thin corpus callosum, and progressive microcephaly is an autosomal recessive neurodevelopmental disorder characterized by onset of those features and severely impaired global development in early infancy. Most patients are unable to achieve independent walking or speech; some patients have seizures (summary by Srour et al., 2015 and Heimer et al., 2015).

SPASTIC TETRAPLEGIA-THIN CORPUS CALLOSUM-PROGRESSIVE POSTNATAL MICROCEPHALY SYNDROME Is also known as spastic quadriplegia-thin corpus callosum-progressive postnatal microcephaly syndrome|asct1 deficiency

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about SPASTIC TETRAPLEGIA-THIN CORPUS CALLOSUM-PROGRESSIVE POSTNATAL MICROCEPHALY SYNDROME

The neuronal ceroid lipofuscinoses (NCL; CLN) are a clinically and genetically heterogeneous group of neurodegenerative disorders characterized by the intracellular accumulation of autofluorescent lipopigment storage material in different patterns ultrastructurally. The lipopigment patterns observed most often in CLN8 comprise mixed combinations of 'granular,' 'curvilinear,' and 'fingerprint' profiles (Mole et al., 2005).For a general phenotypic description and a discussion of genetic heterogeneity of CLN, see CLN1 (OMIM ).

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Ataxia
  • Delayed speech and language development


SOURCES: OMIM MENDELIAN

More info about CEROID LIPOFUSCINOSIS, NEURONAL, 8; CLN8

Tetrahydrobiopterin (BH4)-deficient hyperphenylalaninemia (HPA) comprises a genetically heterogeneous group of progressive neurologic disorders caused by autosomal recessive mutations in the genes encoding enzymes involved in the synthesis or regeneration of BH4. BH4 is a cofactor for phenylalanine hydroxylase (PAH ), tyrosine hydroxylase (TH ) and tryptophan hydroxylase (TPH1 ), the latter 2 of which are involved in neurotransmitter synthesis. The BH4-deficient HPAs are characterized phenotypically by hyperphenylalaninemia, depletion of the neurotransmitters dopamine and serotonin, and progressive cognitive and motor deficits (Dudesek et al., 2001).HPABH4A, caused by mutations in the PTS gene, represents the most common cause of BH4-deficient hyperphenylalaninemia (Dudesek et al., 2001). Other forms of BH4-deficient HPA include HPABH4B (OMIM ), caused by mutation in the GCH1 gene (OMIM ), HPABH4C (OMIM ), caused by mutation in the QDPR gene (OMIM ), and HPABH4D (OMIM ), caused by mutation in the PCBD1 gene (OMIM ). Niederwieser et al. (1982) noted that about 1 to 3% of patients with hyperphenylalaninemia have one of these BH4-deficient forms. These disorders are clinically and genetically distinct from classic phenylketonuria (PKU ), caused by mutation in the PAH gene.Two additional disorders associated with BH4 deficiency and neurologic symptoms do not have overt hyperphenylalaninemia as a feature: dopa-responsive dystonia (OMIM ), caused by mutation in the SPR gene (OMIM ), and autosomal dominant dopa-responsive dystonia (DYT5 ), caused by mutation in the GCH1 gene. Patients with these disorders may develop hyperphenylalaninemia when stressed.

HYPERPHENYLALANINEMIA, BH4-DEFICIENT, A; HPABH4A Is also known as hyperphenylalaninemia, tetrahydrobiopterin-deficient, due to pts deficiency|6-pyruvoyl-tetrahydropterin synthase deficiency|pts deficiency

Related symptoms:

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Microcephaly
  • Ataxia


SOURCES: OMIM MENDELIAN

More info about HYPERPHENYLALANINEMIA, BH4-DEFICIENT, A; HPABH4A

HYPERPHENYLALANINEMIA, BH4-DEFICIENT, B; HPABH4B Is also known as gtp cyclohydrolase i deficiency|hyperphenylalaninemia, tetrahydrobiopterin-deficient, due to gtp cyclohydrolase i deficiency

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about HYPERPHENYLALANINEMIA, BH4-DEFICIENT, B; HPABH4B

Top 5 symptoms//phenotypes associated to Hyperreflexia and Irritability

Symptoms // Phenotype % cases
Seizures Common - Between 50% and 80% cases
Spasticity Uncommon - Between 30% and 50% cases
Global developmental delay Uncommon - Between 30% and 50% cases
Intellectual disability Uncommon - Between 30% and 50% cases
Ataxia Uncommon - Between 30% and 50% cases

Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases

Gait disturbance Dysarthria Rigidity Dystonia Dysphagia Behavioral abnormality Parkinsonism Depressivity Apathy Generalized hypotonia Microcephaly Personality changes Bradykinesia Tremor Chorea Psychosis Cerebral atrophy

Rare Symptoms - Less than 30% cases

Upper motor neuron dysfunction Impulsivity Obsessive-compulsive behavior Clumsiness Limb dystonia Cognitive impairment Hypoplasia of the corpus callosum Cerebellar atrophy Disinhibition Motor delay Delayed myelination Choreoathetosis Hyperphenylalaninemia Excessive salivation Episodic fever Hypokinesia Poor suck Intellectual disability, progressive Progressive neurologic deterioration Spastic tetraplegia Postural instability Muscular hypotonia of the trunk Hypertonia Frontotemporal dementia Hyperactivity Babinski sign Progressive microcephaly Echolalia Neurological speech impairment Restlessness Abnormality of extrapyramidal motor function Strabismus Mental deterioration Generalized tonic-clonic seizures Abnormality of the cerebral white matter Memory impairment Abnormality of movement Anxiety Cerebral cortical atrophy Dementia Involuntary movements Fasciculations Mutism Stereotypy Abnormality of eye movement Autism Intracellular accumulation of autofluorescent lipopigment storage material Vacuolated lymphocytes Hyperactive deep tendon reflexes Focal impaired awareness seizure Broad-based gait Progressive visual loss Nevus Developmental regression EEG abnormality Reduced visual acuity Curvilinear intracellular accumulation of autofluorescent lipopigment storage material Infantile encephalopathy Myoclonus Visual loss Visual impairment Delayed speech and language development Decreased light- and dark-adapted electroretinogram amplitude Hypsarrhythmia Hip dysplasia Febrile seizures Generalized myoclonic seizures Tetraplegia Inability to walk Increased neuronal autofluorescent lipopigment Limb hypertonia Action tremor Torticollis Abnormality of the eye Hyperhidrosis Constipation Encephalopathy Fatigue Fever Feeding difficulties Ptosis Muscular hypotonia Severe muscular hypotonia Transient hyperphenylalaninemia Drooling Delusions Excessive daytime somnolence Weight loss Hyperkinesis Falls Neurodegeneration Primitive reflex Opisthotonus Small for gestational age Hallucinations Abnormality of the nervous system Lethargy Acanthocytosis Cerebellar vermis atrophy Absent speech Collectionism Abnormal lower motor neuron morphology Bulbar palsy Amyotrophic lateral sclerosis Language impairment Progressive muscle weakness Apraxia Hyporeflexia Poor speech Skeletal muscle atrophy Muscle weakness Emotional blunting EEG with continuous slow activity Abulia Optic atrophy Lack of insight Hyperorality Frontotemporal cerebral atrophy Restrictive behavior Dyscalculia Abnormal brain FDG positron emission tomography Inappropriate behavior Perseveration Dysgraphia Astrocytosis Dyslexia Dysphasia Thickened nuchal skin fold Speech apraxia Blindness Functional motor deficit Vertigo Limb joint contracture Abnormality of the periventricular white matter Loss of speech Progressive spasticity Clonus Caudate atrophy Postnatal microcephaly Intellectual disability, profound Abnormal corpus striatum morphology Abnormality of the cerebrum Sleep disturbance Dyskinesia Hypoglycemia Flexion contracture Retinopathy Coma Drowsiness Violent behavior Inertia Tongue atrophy Oromandibular dystonia Focal dystonia Hyperinsulinemic hypoglycemia Emotional lability Hypoglycemic seizures Aggressive behavior Frequent falls Abnormal pyramidal sign Oculogyric crisis


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