Hyperreflexia, and Coma

Diseases related with Hyperreflexia and Coma

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

Top matches:

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

Thiamine metabolism dysfunction syndrome-2 is an autosomal recessive metabolic disorder characterized by episodic encephalopathy, often triggered by febrile illness, presenting as confusion, seizures, external ophthalmoplegia, dysphagia, and sometimes coma and death. Administration of high doses of biotin, and sometimes thiamine, during these crises results in partial or complete improvement within days. If untreated, encephalopathies can result in permanent dystonia. Brain imaging may show characteristic bilateral lesions of the basal ganglia. It is not known why biotin administration results in clinical improvement, as the molecular basis of the disorder is mutation in a gene encoding a thiamine transporter. However, biotin may increase the gene expression of SLC19A3 (summary by Debs et al., 2010).For a discussion of genetic heterogeneity of disorders due to thiamine metabolism dysfunction, see THMD1 (OMIM ).

BIOTIN-THIAMINE-RESPONSIVE BASAL GANGLIA DISEASE Is also known as btbgd|basal ganglia disease, biotin-responsive|biotin-responsive basal ganglia disease|bbgd|encephalopathy, thiamine-responsive

Related symptoms:

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


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about BIOTIN-THIAMINE-RESPONSIVE BASAL GANGLIA DISEASE

Medium match ARGININEMIA

Arginase deficiency is a rare autosomal recessive amino acid metabolism disorder characterized clinically by variable degrees of hyperammonemia, developing from about 3 years of age, and leading to progressive loss of developmental milestones and spasticity in the absence of treatment.

ARGININEMIA Is also known as arg1 deficiency|arginase deficiency|hyperargininemia

Related symptoms:

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


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about ARGININEMIA

Other less relevant matches:

3-methylcrotonyl-CoA carboxylase deficiency (3-MCCD) is an inherited disorder of leucine metabolism characterized by a highly variable clinical picture ranging from metabolic crisis in infancy to asymptomatic adults.

3-METHYLCROTONYL-COA CARBOXYLASE DEFICIENCY Is also known as mcc1 deficiency|3-methylcrotonylglycinuria i|mccd|3-methylcrotonylglycinuria|methylcrotonylglycinuria type i|mccd type 1|mcc deficiency

Related symptoms:

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


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about 3-METHYLCROTONYL-COA CARBOXYLASE DEFICIENCY

Gerstmann-Straussler-Scheinker syndrome (GSSS) is a particular and rare form of human transmissible spongiform encephalopathy (TSE) due to a defective gene encoding the prion protein (PRNP gene) and marked by particular multicentric amyloid plaques in the brain.

GERSTMANN-STRAUSSLER-SCHEINKER SYNDROME Is also known as gerstmann-straussler-scheinker disease|prion dementia|subacute spongiform encephalopathy, gerstmann-straussler type|encephalopathy, subacute spongiform, gerstmann-straussler type|amyloidosis, cerebral, with spongiform encephalopathy|cerebellar ataxia, pro

Related symptoms:

  • Seizures
  • Hearing impairment
  • Ataxia
  • Nystagmus
  • Spasticity


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about GERSTMANN-STRAUSSLER-SCHEINKER SYNDROME

Vanishing white matter leukodystrophy is an autosomal recessive neurologic disorder characterized by variable neurologic features, including progressive cerebellar ataxia, spasticity, and cognitive impairment associated with white matter lesions on brain imaging. The age at onset can range from early infancy to adulthood. Rapid neurologic deterioration can occur following minor head trauma. Female mutation carriers may develop ovarian failure, manifest as primary amenorrhea or as secondary amenorrhea lasting more than 6 months, associated with elevated gonadotropin levels at age less than 40 years (summary by Van der Knaap et al., 1998 and Schiffmann et al., 1997).

LEUKOENCEPHALOPATHY WITH VANISHING WHITE MATTER; VWM Is also known as cach|cle|childhood ataxia with central nervous system hypomyelinization|cree leukoencephalopathy|vanishing white matter leukodystrophy

Related symptoms:

  • Seizures
  • Generalized hypotonia
  • Ataxia
  • Muscle weakness
  • Muscular hypotonia


SOURCES: ORPHANET OMIM MENDELIAN

More info about LEUKOENCEPHALOPATHY WITH VANISHING WHITE MATTER; VWM

CITRULLINEMIA, CLASSIC Is also known as ass deficiency|argininosuccinate synthetase deficiency|citrullinemia, type i|ctln1|citrullinuria

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about CITRULLINEMIA, CLASSIC

Neonatal glycine encephalopathy is a frequent, usually severe form of glycine encephalopathy (GE; see this term) characterized by coma, apnea, hypotonia, seizure and myoclonic jerks in the neonatal period, and subsequent developmental delay.

NEONATAL GLYCINE ENCEPHALOPATHY Is also known as classic glycine encephalopathy|neonatal nkh|nkh|neonatal non-ketotic hyperglycinemia|hyperglycinemia, nonketotic

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about NEONATAL GLYCINE ENCEPHALOPATHY

3-METHYLCROTONYL-COA CARBOXYLASE 2 DEFICIENCY; MCC2D Is also known as 3-methylcrotonylglycinuria ii|mcc2 deficiency|methylcrotonylglycinuria, type ii

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Failure to thrive


SOURCES: OMIM MESH MENDELIAN

More info about 3-METHYLCROTONYL-COA CARBOXYLASE 2 DEFICIENCY; MCC2D

3-methylglutaconic aciduria (3-MGA) type I is an inborn error of leucine metabolism with a variable clinical phenotype ranging from mildly delayed speech to psychomotor retardation, coma, failure to thrive, metabolic acidosis and dystonia.

3-METHYLGLUTACONIC ACIDURIA TYPE 1 Is also known as 3-methylglutaconyl-coa hydratase deficiency|3mg-coa hydratase deficiency|mga1|3-mg-coa-hydratase deficiency|mga, type i

Related symptoms:

  • Seizures
  • Global developmental delay
  • Short stature
  • Hearing impairment
  • Microcephaly


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about 3-METHYLGLUTACONIC ACIDURIA TYPE 1

Top 5 symptoms//phenotypes associated to Hyperreflexia and Coma

Symptoms // Phenotype % cases
Seizures Very Common - Between 80% and 100% cases
Encephalopathy Common - Between 50% and 80% cases
Ataxia Common - Between 50% and 80% cases
Generalized hypotonia Common - Between 50% and 80% cases
Global developmental delay Common - Between 50% and 80% cases

Other less frequent symptoms

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

Common Symptoms - More than 50% cases

Intellectual disability

Uncommon Symptoms - Between 30% and 50% cases

Spasticity

Common Symptoms - More than 50% cases

Irritability

Uncommon Symptoms - Between 30% and 50% cases

Lethargy

Common Symptoms - More than 50% cases

Vomiting

Uncommon Symptoms - Between 30% and 50% cases

Feeding difficulties Acidosis Hyperammonemia Cerebral atrophy Aciduria Diarrhea Visual loss Paraparesis Muscular hypotonia Confusion Tetraplegia Failure to thrive Dysarthria Hypoglycemia Growth delay Severe global developmental delay Spastic tetraplegia Cognitive impairment Optic atrophy Metabolic acidosis Gliosis Microcephaly Dystonia Motor delay Hepatomegaly Gait disturbance Edema Nystagmus Behavioral abnormality Hyperactivity Ketoacidosis Muscle stiffness Myopathy Spastic paraparesis Progressive cerebellar ataxia Progressive neurologic deterioration Cerebral palsy Dementia Gait ataxia Limb ataxia Neurodegeneration Athetosis Hypertonia Memory impairment Unsteady gait

Rare Symptoms - Less than 30% cases

Leukoencephalopathy Areflexia Intellectual disability, profound Delusions Macrocephaly Gastroesophageal reflux Stroke Brain atrophy Abnormality of movement Abnormality of the cerebral white matter Apnea Involuntary movements Hemiparesis Emotional lability Leukodystrophy Depressivity Personality changes Slurred speech Hallucinations Psychosis Mental deterioration Aggressive behavior Hepatic steatosis Myoclonus Hyporeflexia Insomnia Respiratory alkalosis Opisthotonus Tremor Peripheral neuropathy Hearing impairment Neutropenia Acute hyperammonemia Neutrophilia Organic aciduria Choreoathetosis Ketonuria Delayed speech and language development Blindness Oroticaciduria Paralysis Nausea Respiratory insufficiency Dysphagia Intellectual disability, severe Respiratory failure Developmental regression Fever Mutism Spastic paraplegia Rigidity Limb muscle weakness Paraplegia Lower limb muscle weakness Abnormality of the basal ganglia Abnormality of the nervous system Intellectual disability, mild Spastic diplegia Cerebral edema Loss of consciousness Hyperglycinuria Focal-onset seizure Drowsiness Spastic tetraparesis Hypoargininemia Protein avoidance Hepatic encephalopathy Delayed menarche Hyperglutaminemia Enuresis Episodic ammonia intoxication Echolalia Progressive visual loss Hypertension Short attention span Ankle clonus Mania Vertical supranuclear gaze palsy Abnormality of the coagulation cascade 3-Methylglutaconic aciduria Hyperventilation Hyperchloremic acidosis Testicular dysgenesis CNS demyelination Cerebral hypomyelination Primary gonadal insufficiency Diffuse leukoencephalopathy Nonprogressive cerebellar ataxia Skeletal myopathy Increased intracranial pressure Rapid neurologic deterioration Spastic hemiparesis Cessation of head growth Decreased circulating progesterone Respiratory distress Febrile seizures Cirrhosis Clonus Headache Neonatal hypotonia Hypoplasia of the corpus callosum Pill-rolling tremor Alopecia Dilatation Leukopenia Poor suck Congestive heart failure Ventriculomegaly Fatigue Skeletal muscle atrophy Recurrent singultus Cyanosis Impulsivity Episodic ketoacidosis Nonketotic hyperglycinemia Delirium Posterior fossa cyst Infantile spasms Secondary amenorrhea Weak cry Restlessness Elevated hepatic transaminase Hypsarrhythmia Hydrocephalus Cardiomyopathy Thrombocytopenia Agenesis of corpus callosum Urinary incontinence Autism Dilated cardiomyopathy Hyperglycinemia Intellectual disability, moderate Autistic behavior Recurrent infections Cataract Chorea Short stature Attention deficit hyperactivity disorder Propionyl-CoA carboxylase deficiency Necrotizing encephalopathy Encephalomalacia Decreased plasma carnitine Seborrheic dermatitis Hypoventilation Dehydration Progressive encephalopathy Cerebral cortical atrophy Axonal degeneration Aminoaciduria Craniofacial dystonia Focal motor seizures EEG abnormality Postnatal growth retardation Neurological speech impairment Nausea and vomiting Talipes Anorexia Tachypnea Cogwheel rigidity Hemiplegia/hemiparesis Alkalosis Reduced consciousness/confusion Breathing dysregulation Loss of ability to walk Cystinuria Progressive spastic quadriplegia Hyperlysinuria Diaminoaciduria Acute encephalopathy Morphological abnormality of the pyramidal tract Failure to thrive in infancy Abnormal pyramidal sign Strabismus Vertigo Hyperinsulinemic hypoglycemia Hypoglycemic seizures Ptosis Babinski sign Muscular hypotonia of the trunk Facial palsy Ophthalmoplegia Loss of speech Inability to walk Generalized-onset seizure Status epilepticus Tetraparesis External ophthalmoplegia Bilateral ptosis Focal impaired awareness seizure Abnormality of mitochondrial metabolism Atrophy/Degeneration affecting the brainstem Feeding difficulties in infancy Poor appetite Premature ovarian insufficiency Dysesthesia Alzheimer disease Global brain atrophy Aphasia Neurofibrillary tangles Impaired smooth pursuit Lewy bodies Hypomimic face Supranuclear gaze palsy Perseveration Apathy Cerebral amyloid angiopathy Muscle weakness Distal muscle weakness Amenorrhea Peripheral demyelination Primary amenorrhea Spastic gait CNS hypomyelination Encephalitis Akinesia Hyperkinesis Abnormality of the cerebral vasculature Abnormality of eye movement Acute hepatic steatosis Episodic metabolic acidosis Abnormality of leucine metabolism Cerebellar atrophy Weight loss Difficulty walking Anxiety Abnormality of the eye Poor speech Truncal ataxia Dysmetria Paresthesia Parkinsonism Hip dysplasia Bradykinesia Abnormality of extrapyramidal motor function Apraxia Clumsiness Chronic diarrhea Progressive forgetfulness


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