Hyperreflexia, and Gastroesophageal reflux

Diseases related with Hyperreflexia and Gastroesophageal reflux

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

Top matches:

Related symptoms:

  • Seizures
  • Spasticity
  • Motor delay
  • Hyperreflexia
  • Myopia


SOURCES: OMIM MENDELIAN

More info about HYPEREKPLEXIA 2; HKPX2

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

Hereditary hyperekplexia is a hereditary neurological disorder characterized by excessive startle responses.

HEREDITARY HYPEREKPLEXIA Is also known as hereditary hyperexplexia|familial startle disease|kok disease|startle disease, familial|stiff baby syndrome|exaggerated startle reaction|sthe|congenital stiff man syndrome|stiff-baby syndrome|stiff-person syndrome, congenital|startle reaction, exaggerated

Related symptoms:

  • Intellectual disability
  • Seizures
  • Ataxia
  • Spasticity
  • Hyperreflexia


SOURCES: OMIM ORPHANET MENDELIAN

More info about HEREDITARY HYPEREKPLEXIA

Other less relevant matches:

Pontocerebellar hypoplasia type 8 (PCH8) is a novel very rare form of pontocerebellar hypoplasia (see this term) characterized clinically by progressive microencephaly, feeding difficulties, severe developmental delay, although walking may be achieved, hypotonia often associated with increased muscle tone of lower extremities and deep tendon reflexes, joint deformities in the lower extremities, and occasionally complex seizures. PCH8 is caused by a loss-of-function mutation in the CHMP1A gene. MRI demonstrates a pontocerebellar hypoplasia with vermis and hemispheres equally affected and mild to severely reduced cerebral white matter volume with a fully formed very thin corpus callosum.

PONTOCEREBELLAR HYPOPLASIA TYPE 8 Is also known as pontocerebellar hypoplasia due to chmp1a mutation|pch8

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about PONTOCEREBELLAR HYPOPLASIA TYPE 8

Combined oxidative phosphorylation deficiency-32 is an autosomal recessive neurodegenerative disorder characterized by onset of delayed psychomotor development and developmental regression in infancy. Affected individuals have multiple variable symptoms, including poor or absent speech, inability to walk, and abnormal movements. Brain imaging shows T2-weighted abnormalities in the basal ganglia and brainstem consistent with Leigh syndrome (OMIM ). Patient cells showed decreased activities of mitochondrial respiratory chain complexes, I, III, and IV, as well as impaired mitochondrial translation (summary by Lake et al., 2017).For a discussion of genetic heterogeneity of combined oxidative phosphorylation deficiency, see COXPD1 (OMIM ).

Related symptoms:

  • Global developmental delay
  • Generalized hypotonia
  • Microcephaly
  • Nystagmus
  • Strabismus


SOURCES: OMIM MENDELIAN

More info about COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 32; COXPD32

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

Aromatic L-amino acid decarboxylase deficiency is a very rare, severe, genetic neurometabolic disorder associated with clinical manifestations related to underproduction of serotonin and dopamine, mainly hypotonia, hypokinesia, ptosis oculogyric crises, and signs of autonomic dysfunction.

AROMATIC L-AMINO ACID DECARBOXYLASE DEFICIENCY Is also known as ddc deficiency|aadc deficiency|dopa decarboxylase deficiency

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Generalized hypotonia
  • Pain
  • Ptosis


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about AROMATIC L-AMINO ACID DECARBOXYLASE DEFICIENCY

Autosomal dominant spastic paraplegia-9A is a neurologic disorder characterized by onset of slowly progressive spasticity mainly affecting the lower limbs. The age at onset usually ranges from adolescence to adulthood, and patients have gait difficulties, motor neuropathy, and dysarthria. Additional variable features include cerebellar signs, cataract, pes cavus, and urinary urgency (summary by Coutelier et al., 2015).For a general phenotypic description and a discussion of genetic heterogeneity of autosomal dominant spastic paraplegia, see SPG3A (OMIM ).

SPASTIC PARAPLEGIA 9A, AUTOSOMAL DOMINANT; SPG9A Is also known as spastic paraparesis with amyotrophy, cataracts, and gastroesophageal reflux|cataracts with motor neuronopathy, short stature, and skeletal abnormalities

Related symptoms:

  • Global developmental delay
  • Short stature
  • Nystagmus
  • Muscle weakness
  • Cataract


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about SPASTIC PARAPLEGIA 9A, AUTOSOMAL DOMINANT; SPG9A

Non-progressive cerebellar ataxia with intellectual deficit is a rare subtype of autosomal dominant cerebellar ataxia type 1 (ADCA type 1; see this term) characterized by the onset in infancy of cerebellar ataxia, neonatal hypotonia (in some), mild developmental delay and, in later life, intellectual disability. Less common features include dysarthria, dysmetria and dysmorphic facial features (long face, bulbous nose long philtrum, thick lower lip and pointed chin).

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Generalized hypotonia


SOURCES: OMIM ORPHANET MENDELIAN

More info about NON-PROGRESSIVE CEREBELLAR ATAXIA WITH INTELLECTUAL DISABILITY

Medium match CANAVAN DISEASE

CANAVAN DISEASE Is also known as spongy degeneration of central nervous system|aminoacylase 2 deficiency|asp deficiency|aspartoacylase deficiency|aspa deficiency|acy2 deficiency|canavan-van bogaert-bertrand disease

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Hearing impairment


SOURCES: ORPHANET OMIM MENDELIAN

More info about CANAVAN DISEASE

Top 5 symptoms//phenotypes associated to Hyperreflexia and Gastroesophageal reflux

Symptoms // Phenotype % cases
Spasticity 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
Seizures Common - Between 50% and 80% cases

Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases

Feeding difficulties Nystagmus Myoclonus Feeding difficulties in infancy Muscular hypotonia of the trunk Hypertonia Constipation Vomiting Irritability Lethargy Apnea Rigidity Leukodystrophy Dystonia Sleep disturbance Myopia Hernia Flexion contracture Babinski sign Hiatus hernia Microcephaly

Rare Symptoms - Less than 30% cases

Visual impairment Gait ataxia Severe global developmental delay Hypoplasia of the corpus callosum Pes cavus Dysphagia Cerebellar hypoplasia Chorea Involuntary movements Absent speech Strabismus Ptosis Muscular hypotonia Optic atrophy Brain atrophy Dysarthria Hyperkinesis Macrocephaly Opisthotonus Cerebral palsy Aciduria Hypoglycemia Tremor Diarrhea Edema Muscle stiffness Choreoathetosis Gliosis Developmental regression Hypokinesia Short stature Failure to thrive Esotropia Postnatal microcephaly Hyperactivity Gait disturbance Exaggerated startle response Abnormality of movement EEG abnormality Respiratory failure Encephalopathy Growth delay Respiratory insufficiency Aspiration Astigmatism Ataxia Motor delay Fatigue Low-set ears Abnormal facial shape High palate Delayed speech and language development Cerebellar atrophy Nasal regurgitation Downslanted palpebral fissures Anteverted nares Dysfunction of lateral corticospinal tracts Intellectual disability, mild Long philtrum Decerebrate rigidity Cerebral cortical atrophy Narrow mouth Deeply set eye Hypertelorism Hippocampal atrophy Chorioretinal dystrophy Specific learning disability Skeletal muscle atrophy Abnormality of the skeletal system Clinodactyly Delayed skeletal maturation Spastic paraplegia Paraplegia Lower limb muscle weakness Abnormal cerebellum morphology Urinary incontinence Lower limb spasticity Shallow acetabular fossae Paraparesis Spastic paraparesis Abnormality of pelvic girdle bone morphology Impaired vibratory sensation Urinary urgency Generalized amyotrophy Progressive spasticity Short 5th finger Motor polyneuropathy Carpal bone hypoplasia Abnormal upper motor neuron morphology Abnormal pyramidal sign Neonatal hypotonia Cognitive impairment Pointed chin Peripheral neuropathy Brisk reflexes Palpebral edema Large forehead Generalized-onset seizure Peripheral demyelination Paralysis Blindness Abnormal cortical gyration Depressed nasal ridge Hearing impairment Segmental myoclonic seizures Hypoplastic hippocampus Impaired social interactions Positive Romberg sign Nonprogressive cerebellar ataxia Abnormal social behavior Poor motor coordination Narrow nasal tip Mesiodens Abnormality of retinal pigmentation Thick lower lip vermilion Aggressive behavior Bulbous nose Protruding ear Autistic behavior Short ear Vegetative state Broad forehead Dysmetria Unsteady gait Long face Homocystinuria Wide nose Intention tremor CNS demyelination Delayed closure of the anterior fontanelle Reduced consciousness/confusion Broad nasal tip Generalized myoclonic seizures Memory impairment Megalencephaly Abnormality of visual evoked potentials Oral-pharyngeal dysphagia Poor head control Infantile muscular hypotonia Ketonuria Cataract Poor speech Loss of consciousness Atonic seizures Esophagitis Myokymia Nocturnal seizures Talipes equinovarus Arthrogryposis multiplex congenita Hypermetropia Abnormality of the foot Hypertrichosis Joint dislocation Cerebral visual impairment Hypoplasia of the brainstem Talipes valgus Visual loss Kyphoscoliosis Coarse facial features Inability to walk Increased serum lactate Exotropia Myotonia Congenital hip dislocation Areflexia Abnormal muscle tone Meningitis Glabellar reflex Intellectual disability, severe Polymicrogyria Progressive microcephaly Intellectual disability, progressive Poor eye contact Hypoventilation Central hypoventilation Congenital encephalopathy Fasciculations Fever Inguinal hernia Umbilical hernia Anxiety Joint stiffness Hip dislocation Falls Epileptic encephalopathy Frequent falls Increased CSF lactate Acidosis Muscle weakness Orthostatic hypotension Hypotension Cyanosis Abnormality of the face Cardiac arrest Abnormal autonomic nervous system physiology Drooling Emotional lability Athetosis Agitation Limb dystonia Abnormality of eye movement Insomnia Limb hypertonia Hypothermia Miosis Nasal obstruction Temperature instability Decreased CSF homovanillic acid Vitreomacular adhesion Intermittent hypothermia Syncope Hyperhidrosis Stroke Poor appetite Nausea Metabolic acidosis Coma Tetraplegia Focal-onset seizure Intellectual disability, profound Hemiparesis Hyperammonemia Failure to thrive in infancy Drowsiness Cerebral atrophy Ketoacidosis Abnormality of the cerebral vasculature Organic aciduria Neutrophilia Acute hepatic steatosis Episodic metabolic acidosis Acute hyperammonemia Abnormality of leucine metabolism Pain Aplasia/Hypoplasia involving the central nervous system


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