Hyperreflexia, and Autistic behavior

Diseases related with Hyperreflexia and Autistic behavior

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

Top matches:

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:

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


SOURCES: OMIM MENDELIAN

More info about MENTAL RETARDATION, AUTOSOMAL RECESSIVE 57; MRT57

Epileptic encephalopathy with global cerebral demyelination is a rare mitochondrial substrate carrier disorder characterized by severe muscular hypotonia, seizures (with or without episodic apnea) beginning in the first year of life, and arrested psychomotor development (affecting mainly motor skills). Severe spasticity with hyperreflexia has also been reported. Global cerebral hypomyelination is a characteristic imaging feature of this disease.

EPILEPTIC ENCEPHALOPATHY WITH GLOBAL CEREBRAL DEMYELINATION Is also known as aspartate-glutamate carrier 1 deficiency|agc1 deficiency|mitochondrial aspartate-glutamate carrier 1 deficiency|hypomyelination, global cerebral

Related symptoms:

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


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about EPILEPTIC ENCEPHALOPATHY WITH GLOBAL CEREBRAL DEMYELINATION

Other less relevant matches:

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

Female restricted epilepsy with intellectual disability is a rare X-linked epilepsy syndrome characterized by febrile or afebrile seizures (mainly tonic-clonic, but also absence, myoclonic, and atonic) starting in the first years of life and, in most cases, developmental delay and intellectual disability of variable severity. Behavioral disturbances (e.g. autistic features, hyperactivity, and aggressiveness) are also frequently associated. This disease affects exclusively females, with male carriers being unaffected, despite an X-linked inheritance.

FEMALE RESTRICTED EPILEPSY WITH INTELLECTUAL DISABILITY Is also known as juberg-hellman syndrome|efmr|epilepsy, female-restricted, with mental retardation

Related symptoms:

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


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about FEMALE RESTRICTED EPILEPSY WITH INTELLECTUAL DISABILITY

Familial primary hypomagnesemia with normocalciuria and normocalcemia (FPHNN) is a form of familial primary hypomagnesemia (FPH), characterized by low serum magnesium (Mg) values but inappropriate normal urinary Mg values (i.e. renal hypomagnesemia). The typical symptoms are weakness of the limbs, vertigo, headaches, seizures, brisk tendon reflexes and mild to moderate psychomotor delay.

Related symptoms:

  • Seizures
  • Microcephaly
  • Ventriculomegaly
  • Headache
  • Obesity


SOURCES: ORPHANET MENDELIAN

More info about FAMILIAL PRIMARY HYPOMAGNESEMIA WITH NORMOCALCIURIA AND NORMOCALCEMIA

SULFITE OXIDASE DEFICIENCY DUE TO MOLYBDENUM COFACTOR DEFICIENCY TYPE C Is also known as mocod type c|combined deficiency of sulfite oxidase, xanthine dehydrogenase and aldehyde oxidase type c

Related symptoms:

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Feeding difficulties
  • Hyperreflexia


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about SULFITE OXIDASE DEFICIENCY DUE TO MOLYBDENUM COFACTOR DEFICIENCY TYPE C

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

Severe neonatal-onset encephalopathy with microcephaly is a rare monogenic disease with epilepsy characterized by neonatal-onset encephalopathy, microcephaly, severe developmental delay or absent development, breathing abnormalities (including central hypoventilation and/or respiratory insufficiency), intractable seizures, abnormal muscle tone and involuntary movements. Early death is usual.

SEVERE NEONATAL-ONSET ENCEPHALOPATHY WITH MICROCEPHALY Is also known as severe congenital encephalopathy due to mecp2 mutation

Related symptoms:

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


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about SEVERE NEONATAL-ONSET ENCEPHALOPATHY WITH MICROCEPHALY

Hypomyelinating leukodystrophy-9 is an autosomal recessive neurologic disorder characterized by onset of delayed psychomotor development, spasticity, and nystagmus in the first year of life. Additional neurologic features such as ataxia and abnormal movements may also occur. Brain imaging shows diffuse hypomyelination affecting all regions of the brain (summary by Wolf et al., 2014).For a general phenotypic description and a discussion of genetic heterogeneity of HLD, see {312080}.

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about RARS-RELATED AUTOSOMAL RECESSIVE HYPOMYELINATING LEUKODYSTROPHY

Top 5 symptoms//phenotypes associated to Hyperreflexia and Autistic behavior

Symptoms // Phenotype % cases
Seizures Common - Between 50% and 80% cases
Global developmental delay Common - Between 50% and 80% cases
Intellectual disability Common - Between 50% and 80% cases
Generalized hypotonia Common - Between 50% and 80% cases
Poor eye contact Uncommon - Between 30% and 50% cases

Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases

Muscular hypotonia of the trunk Microcephaly Generalized tonic-clonic seizures Spasticity Ataxia Myoclonus Intellectual disability, severe Poor head control Polymicrogyria Autism Delayed speech and language development Psychosis Hypertonia EEG abnormality

Rare Symptoms - Less than 30% cases

Poor speech Developmental regression Epileptic encephalopathy Irritability Dystonia Mental deterioration Aggressive behavior Abnormality of extrapyramidal motor function Restlessness Cerebral hypomyelination Encephalopathy CNS hypomyelination Generalized-onset seizure Vomiting Intellectual disability, profound Behavioral abnormality Feeding difficulties Cerebral atrophy Hyperactive deep tendon reflexes Absence seizures Progressive extrapyramidal movement disorder Absent speech Hyperactivity Generalized myoclonic seizures Focal-onset seizure Febrile seizures Apnea Vacuolated lymphocytes Focal impaired awareness seizure Broad-based gait Progressive visual loss Intracellular accumulation of autofluorescent lipopigment storage material Increased neuronal autofluorescent lipopigment Nevus Curvilinear intracellular accumulation of autofluorescent lipopigment storage material Clumsiness Growth delay Neurological speech impairment Reduced visual acuity Sulfite oxidase deficiency Cerebellar hypoplasia Spontaneous abortion Opisthotonus Hypoplasia of the pons Visual loss Hypouricemia Cerebellar atrophy Visual impairment Increased urinary taurine Molybdenum cofactor deficiency Dysarthria Failure to thrive Tremor Infantile axial hypotonia Hyperintensity of cerebral white matter on MRI Lower limb hypertonia Pseudobulbar paralysis Developmental stagnation Diffuse cerebral atrophy Leukodystrophy Lower limb spasticity Intention tremor Increased serum lactate Dysmetria Difficulty walking Intellectual disability, mild Hypoplasia of the corpus callosum Abnormal myelination Respiratory insufficiency Motor delay Nystagmus Congenital encephalopathy Abnormal muscle tone Central hypoventilation Hypoventilation Intellectual disability, progressive Progressive microcephaly Postnatal microcephaly Feeding difficulties in infancy Rigidity Gastroesophageal reflux Respiratory failure Constipation Hypermagnesiuria Scoliosis Moderate global developmental delay Abnormality of the cerebral white matter Dyslexia Echolalia Frontotemporal dementia Thickened nuchal skin fold Loss of speech Dysphasia Personality changes Apathy Mutism Fasciculations Stereotypy Memory impairment Gait disturbance Astrocytosis Leukoencephalopathy Severe muscular hypotonia Delayed myelination Severe global developmental delay Delayed ability to walk Inability to walk Cerebral cortical atrophy Self-mutilation Infantile muscular hypotonia Involuntary movements Abnormality of movement Abnormal pyramidal sign Muscular hypotonia Upper motor neuron dysfunction Disinhibition Hypomagnesemia Status epilepticus Generalized muscle weakness Vertigo Intellectual disability, moderate Obesity Headache Ventriculomegaly Intermittent hyperventilation Hemiclonic seizures Bruxism Hyperventilation Atonic seizures Cutaneous photosensitivity Fever Dysgraphia Cognitive impairment Emotional blunting EEG with continuous slow activity Collectionism Abulia Lack of insight Hyperorality Frontotemporal cerebral atrophy Restrictive behavior Dyscalculia Abnormal brain FDG positron emission tomography Inappropriate behavior Perseveration Absent smooth pursuit


If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Arthritis and Inguinal hernia, related diseases and genetic alterations Ventricular septal defect and Lymphopenia, related diseases and genetic alterations