Hyperreflexia, and Nausea and vomiting

Diseases related with Hyperreflexia and Nausea and vomiting

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

Top matches:

Autosomal dominant spastic paraplegia type 29 (SPG29) is a complex form of hereditary spastic paraplegia characterized by a spastic paraplegia presenting in adolescence, associated with the additional manifestations of sensorial hearing impairment due to auditory neuropathy and persistent vomiting due to a hiatal or paraesophageal hernia.

AUTOSOMAL DOMINANT SPASTIC PARAPLEGIA TYPE 29 Is also known as spg29

Related symptoms:

  • Seizures
  • Hearing impairment
  • Sensorineural hearing impairment
  • Spasticity
  • Hyperreflexia


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about AUTOSOMAL DOMINANT SPASTIC PARAPLEGIA TYPE 29

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

Other less relevant matches:

Rolandic epilepsy (RE) is a focal childhood epilepsy characterized by seizures consisting of unilateral facial sensory-motor symptoms, with electroencephalogram (EEG) showing sharp biphasic waves over the rolandic region. It is an age-related epilepsy, with excellent outcome.

ROLANDIC EPILEPSY Is also known as becrs|bre|benign rolandic epilepsy|bects|centrotemporal epilepsy|benign epilepsy of childhood with centrotemporal spikes|benign familial epilepsy of childhood with rolandic spikes

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Microcephaly
  • Abnormal facial shape


SOURCES: ORPHANET OMIM MENDELIAN

More info about ROLANDIC EPILEPSY

Classical phenylketonuria is a severe form of phenylketonuria (PKU, see this term) an inborn error of amino acid metabolism characterized in untreated patients by severe intellectual deficit and neuropsychiatric complications.

CLASSIC PHENYLKETONURIA Is also known as classic pku

Related symptoms:

  • Seizures
  • Global developmental delay
  • Microcephaly
  • Growth delay
  • Cataract


SOURCES: ORPHANET MENDELIAN

More info about CLASSIC PHENYLKETONURIA

Autosomal dominant Charcot-Marie-Tooth disease type 2A2 (CMT2A2) is a subtype of Autosomal dominant Charcot-Marie-Tooth disease type 2 characterized by the childhood onset of distal weakness and areflexia (with earlier and more severe involvement of the lower extremities), reduced sensory modalities (primarily pain and temperature sensation), foot deformities, postural tremor, scoliosis and contractures. Optic atrophy, vocal cord palsy with dysphonia, sensorineural hearing loss, spinal cord abnormalities and hydrocephalus have also been reported.

AUTOSOMAL DOMINANT CHARCOT-MARIE-TOOTH DISEASE TYPE 2A2 Is also known as cmt2a2|hmsn2a2|hereditary motor and sensory neuropathy iia2|charcot-marie-tooth disease, neuronal, type 2a2|hmsn iia2|charcot-marie-tooth disease, axonal, type 2a2|charcot-marie-tooth neuropathy, type 2a2

Related symptoms:

  • Hearing impairment
  • Scoliosis
  • Nystagmus
  • Sensorineural hearing impairment
  • Muscle weakness


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about AUTOSOMAL DOMINANT CHARCOT-MARIE-TOOTH DISEASE TYPE 2A2

Episodic ataxia is a neurologic condition characterized by spells of incoordination and imbalance, often associated with progressive ataxia (Jen et al., 2007). Genetic Heterogeneity of Episodic AtaxiaEpisodic ataxia is a genetically heterogeneous disorder. See also EA2 (OMIM ), caused by mutation in the CACNA1A gene (OMIM ) on chromosome 19p13; EA3 (OMIM ), which maps to chromosome 1q42; EA4 (OMIM ); EA5, caused by mutation in the CACNB4 gene (OMIM ) on chromosome 2q22-q23; EA6 (OMIM ), caused by mutation in the SLC1A3 gene (OMIM ) on chromosome 5p13; EA7 (OMIM ), which maps to chromosome 19q13; and EA8 (OMIM ), which maps to chromosome 1p36-p34.Isolated myokymia-2 (see {121200}) is associated with mutation in the KCNQ2 gene (OMIM ).

EPISODIC ATAXIA, TYPE 1; EA1 Is also known as ataxia, episodic, with myokymia|paroxysmal ataxia with neuromyotonia, hereditary|eam|episodic ataxia with myokymia|aemk|aem|myokymia with periodic ataxia

Related symptoms:

  • Seizures
  • Ataxia
  • Muscle weakness
  • Pain
  • Flexion contracture


SOURCES: OMIM MENDELIAN

More info about EPISODIC ATAXIA, TYPE 1; EA1

Amyotrophic lateral sclerosis (ALS) is a neurodegenerative disease characterized by progressive muscular paralysis reflecting degeneration of motor neurons in the primary motor cortex, corticospinal tracts, brainstem and spinal cord.

AMYOTROPHIC LATERAL SCLEROSIS Is also known as als|amyotrophic lateral sclerosis 1, autosomal dominant|fals|lou gehrig disease|charcot disease|amyotrophic lateral sclerosis 1, familial

Related symptoms:

  • Microcephaly
  • Muscle weakness
  • Pain
  • Cataract
  • Spasticity


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about AMYOTROPHIC LATERAL SCLEROSIS

Low 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

Autosomal recessive hypomyelinating leukodystrophy-3 (HLD3) is a severe neurologic disorder characterized by early infantile onset of global developmental delay, lack of development, lack of speech acquisition, and peripheral spasticity associated with decreased myelination in the central nervous system (summary by Feinstein et al., 2010).The disorder is phenotypically similar to X-linked Pelizaeus-Merzbacher disease (PMD ), which is caused by mutation in the PLP1 gene (OMIM ). For a general phenotypic description and a discussion of genetic heterogeneity of HLD, see {312080}.

Related symptoms:

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


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about PELIZAEUS-MERZBACHER-LIKE DISEASE DUE TO AIMP1 MUTATION

Top 5 symptoms//phenotypes associated to Hyperreflexia and Nausea and vomiting

Symptoms // Phenotype % cases
Seizures Common - Between 50% and 80% cases
Microcephaly Common - Between 50% and 80% cases
Spasticity Common - Between 50% and 80% cases
Vomiting Common - Between 50% and 80% cases
Global developmental delay Common - Between 50% and 80% cases

Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases

Intellectual disability Hypertonia Myoclonus Tremor Generalized hypotonia Ataxia Encephalopathy Growth delay Muscle fibrillation Intellectual disability, severe Pain EEG abnormality Rigidity Muscular hypotonia of the trunk Muscle weakness Nystagmus Clonus Flexion contracture Babinski sign Paraplegia

Rare Symptoms - Less than 30% cases

Paraparesis Dysarthria Cerebral palsy Hypoplasia of the corpus callosum Dystonia Leukodystrophy CNS hypomyelination Pseudobulbar paralysis Fasciculations Spastic paraparesis Slurred speech Muscle cramps Degeneration of anterior horn cells Nausea Areflexia Brain atrophy Tetraplegia Cataract Behavioral abnormality Spastic gait Hearing impairment Gliosis Lower limb muscle weakness Neuronal loss in central nervous system Limb muscle weakness Mental deterioration Abnormal pyramidal sign Depressivity Muscle stiffness Respiratory failure Respiratory insufficiency Postnatal microcephaly Spastic paraplegia Feeding difficulties Apnea Failure to thrive Hyperactivity Pes cavus Poor eye contact Sensorineural hearing impairment Polymicrogyria Parkinsonism Progressive spastic paraparesis Rotary nystagmus Corpus callosum atrophy Generalized muscle weakness Progressive flexion contractures Diaminoaciduria Severe failure to thrive Rapid neurologic deterioration Peripheral demyelination Sleep apnea Decreased muscle mass Emotional lability Amyotrophic lateral sclerosis Global brain atrophy Agitation Spastic tetraparesis Progressive neurologic deterioration Ankle clonus Skeletal dysplasia Projectile vomiting Tetany Hyperkinesis Sudanophilic leukodystrophy Incoordination Abnormality of the hand Postural tremor Blurred vision Cerebellar vermis atrophy Hypomagnesemia Episodic ataxia Myokymia Neurodegeneration Facial myokymia Skeletal muscle atrophy Fatigue Dysphagia Dementia Dyspnea Xerostomia Anxiety Paralysis Bulbar palsy Motor neuron atrophy Frontotemporal dementia Breathing dysregulation Severe global developmental delay Hyperammonemia Athetosis Hemiplegia/hemiparesis Spastic diplegia Loss of consciousness Alkalosis Reduced consciousness/confusion Coarse facial features Cerebral edema Arthrogryposis multiplex congenita Loss of ability to walk Cystinuria Progressive spastic quadriplegia Hyperlysinuria Oroticaciduria Kyphoscoliosis Absent speech Cerebral atrophy Respiratory alkalosis Aminoaciduria Anorexia Abnormal lower motor neuron morphology Hypsarrhythmia Degeneration of the lateral corticospinal tracts Functional respiratory abnormality Visual impairment Laryngospasm Fatigable weakness of respiratory muscles Fatigable weakness of bulbar muscles Fatigable weakness of swallowing muscles Tetraparesis Hepatomegaly Gait disturbance Spastic tetraplegia Focal-onset seizure Edema Developmental regression Irritability Premature birth Postnatal growth retardation Neurological speech impairment Lethargy Talipes Coma Tachypnea Chorea Choreoathetosis Developmental stagnation Intellectual disability, mild Difficulty walking Dysmetria Increased serum lactate Abnormality of extrapyramidal motor function Intention tremor Lower limb spasticity Poor head control Diffuse cerebral atrophy Lower limb hypertonia Congenital encephalopathy Cerebral hypomyelination Hyperintensity of cerebral white matter on MRI Infantile axial hypotonia Progressive extrapyramidal movement disorder Absent smooth pursuit Abnormal facial shape Anemia Ventriculomegaly Respiratory distress Acidosis Motor delay Abnormal muscle tone Poor speech Hyperreflexia in upper limbs Hernia Urinary incontinence Hyperbilirubinemia Impaired vibratory sensation Urinary urgency Lower limb hyperreflexia Hiatus hernia Impaired proprioception Upper limb spasticity Neonatal hyperbilirubinemia Nocturia Central hypoventilation Kernicterus Urinary hesitancy Abnormality of the rectum Abnormality of the lower urinary tract Constipation Gastroesophageal reflux Feeding difficulties in infancy Progressive microcephaly Intellectual disability, progressive Hypoventilation Generalized tonic-clonic seizures Metabolic acidosis Cyanosis Decreased number of large peripheral myelinated nerve fibers Foot dorsiflexor weakness Abnormal autonomic nervous system physiology Hammertoe Steppage gait Decreased motor nerve conduction velocity Difficulty climbing stairs Decreased number of peripheral myelinated nerve fibers Onion bulb formation Difficulty running Motor polyneuropathy Polyneuropathy Axonal degeneration/regeneration Peripheral axonal atrophy Headache Elevated serum creatine phosphokinase Unsteady gait Vertigo Inability to walk Postural instability Progressive cerebellar ataxia Esotropia Sensorimotor neuropathy Distal sensory impairment Abdominal distention Self-injurious behavior Enterocolitis Fetal distress Prenatal movement abnormality Autism Attention deficit hyperactivity disorder Hypopigmentation of the skin Memory impairment Cerebral calcification Eczema Hemiplegia Hypopigmentation of hair Distal amyotrophy Lack of skin elasticity Motor deterioration Hyperphenylalaninemia Scoliosis Cognitive impairment Peripheral neuropathy Optic atrophy Hyporeflexia Distal muscle weakness Abnormality of the foot Diffuse cerebral sclerosis


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