Hypertension, and Hyperreflexia

Diseases related with Hypertension and Hyperreflexia

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

Top matches:

Maternally inherited cardiomyopathy and hearing loss is a mitochondrial disease described in two unrelated families to date that has a heterogeneous clinical presentation characterized by the association of progressive sensorineural hearing loss with hypertrophic cardiomyopathy and, in the majority of cases, encephalomyopathy symptoms such as ataxia, slurred speech, progressive external opthalmoparesis (PEO), muscle weakness, myalgia, and exercise intolerance.

MITOCHONDRIAL DNA-RELATED CARDIOMYOPATHY AND HEARING LOSS Is also known as mtdna-related cardiomyopathy and hearing loss|trna-lys-related cardiomyopathy-hearing loss syndrome|maternally-inherited cardiomyopathy and deafness

Related symptoms:

  • Ataxia
  • Sensorineural hearing impairment
  • Muscle weakness
  • Hypertension
  • Peripheral neuropathy


SOURCES: ORPHANET MENDELIAN

More info about MITOCHONDRIAL DNA-RELATED CARDIOMYOPATHY AND HEARING LOSS

Autosomal dominant dopa-responsive dystonia (DYT5a) is a rare neurometabolic disorder characterized by childhood-onset dystonia that shows a dramatic and sustained response to low doses of levodopa (L-dopa) and that may be associated with parkinsonism at an older age.

AUTOSOMAL DOMINANT DOPA-RESPONSIVE DYSTONIA Is also known as hpd with marked diurnal fluctuation|gtpch1-deficient dopa-responsive dystonia|gtpch1-deficient drd|dyt5a|hereditary progressive dystonia with marked diurnal fluctuation|autosomal dominant segawa syndrome

Related symptoms:

  • Intellectual disability
  • Hearing impairment
  • Scoliosis
  • Ataxia
  • Hypertension


SOURCES: ORPHANET MENDELIAN

More info about AUTOSOMAL DOMINANT DOPA-RESPONSIVE DYSTONIA

Thyrotoxic periodic paralysis (TPP) is a rare neurological disease characterized by recurrent episodes of paralysis and hypokalemia during a thyrotoxic state.

THYROTOXIC PERIODIC PARALYSIS Is also known as thyrotoxic hypokalemic periodic paralysis

Related symptoms:

  • Muscle weakness
  • Hypertension
  • Hyperreflexia
  • Tremor
  • Obesity


SOURCES: OMIM ORPHANET MENDELIAN

More info about THYROTOXIC PERIODIC PARALYSIS

Other less relevant matches:

Severe neurodegenerative syndrome with lipodystrophy is a rare, genetic, neurodegenerative disorder characterized by progressive psychomotor and cognitive regression (manifesting with gait ataxia, spasticity, loss of language, mild to severe intellectual disability, pyramidal and extrapyramidal signs and, frequently, development of tretraplegia or tetraparesis) associated with variable degrees of lipodystrophy, hepatomegaly, hypertriglyceridemia and muscular hypertorphy. Hyperactivity, tremor and development of seizures may also be associated.

SEVERE NEURODEGENERATIVE SYNDROME WITH LIPODYSTROPHY Is also known as severe neurodegenerative syndrome due to bscl2 deficiency

Related symptoms:

  • Seizures
  • Global developmental delay
  • Ataxia
  • Spasticity
  • Cognitive impairment


SOURCES: OMIM ORPHANET MENDELIAN

More info about SEVERE NEURODEGENERATIVE SYNDROME WITH LIPODYSTROPHY

Low match CARASIL

CARASIL is a hereditary cerebral small vessel disease characterized by early-onset gait disturbances, premature scalp alopecia, ischemic stroke, acute mid to lower back pain and progressive cognitive disturbances leading to severe dementia.

CARASIL Is also known as cerebrovascular disease with thin skin, alopecia, and disc disease|subcortical vascular encephalopathy, progressive|maeda syndrome|cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy

Related symptoms:

  • Ataxia
  • Nystagmus
  • Pain
  • Spasticity
  • Cognitive impairment


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about CARASIL

DYSTONIA, DOPA-RESPONSIVE; DRD Is also known as dystonia, progressive, with diurnal variation|dystonia 5|segawa syndrome, autosomal dominant|dystonia, dopa-responsive, autosomal dominant|dopa-responsive dystonia, autosomal dominant|dystonia-parkinsonism with diurnal fluctuation|dyt5

Related symptoms:

  • Intellectual disability
  • Hearing impairment
  • Scoliosis
  • Nystagmus
  • Spasticity


SOURCES: ORPHANET OMIM MENDELIAN

More info about DYSTONIA, DOPA-RESPONSIVE; DRD

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

Fragile X-associated tremor/ataxia syndrome (FXTAS) is a rare neurodegenerative disorder characterized by adult-onset progressive intention tremor and gait ataxia.

FRAGILE X-ASSOCIATED TREMOR/ATAXIA SYNDROME Is also known as fxtas syndrome

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Hearing impairment
  • Ataxia


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about FRAGILE X-ASSOCIATED TREMOR/ATAXIA SYNDROME

Mitochondrial DNA depletion syndrome-3 is a severe autosomal recessive disorder characterized by onset in infancy of progressive liver failure and neurologic abnormalities, hypoglycemia, and increased lactate in body fluids. Affected tissues show both decreased activity of the mtDNA-encoded respiratory chain complexes (I, III, IV, and V) and mtDNA depletion (Mandel et al., 2001).For a discussion of genetic heterogeneity of autosomal recessive mtDNA depletion syndromes, see MTDPS1 (OMIM ).

Related symptoms:

  • Seizures
  • Generalized hypotonia
  • Microcephaly
  • Growth delay
  • Nystagmus


SOURCES: OMIM ORPHANET MENDELIAN

More info about MITOCHONDRIAL DNA DEPLETION SYNDROME, HEPATOCEREBRAL FORM DUE TO DGUOK DEFICIENCY

Juvenile Huntington disease (JHD) is a form of Huntington disease (HD; see this term), characterized by onset of signs and symptoms before 20 years of age.

JUVENILE HUNTINGTON DISEASE Is also known as huntington chorea|jhd|juvenile huntington chorea

Related symptoms:

  • Seizures
  • Ataxia
  • Cognitive impairment
  • Anemia
  • Delayed speech and language development


SOURCES: OMIM ORPHANET MENDELIAN

More info about JUVENILE HUNTINGTON DISEASE

Top 5 symptoms//phenotypes associated to Hypertension and Hyperreflexia

Symptoms // Phenotype % cases
Ataxia Common - Between 50% and 80% cases
Encephalopathy Common - Between 50% and 80% cases
Mental deterioration Uncommon - Between 30% and 50% cases
Gait disturbance Uncommon - Between 30% and 50% cases
Tremor Uncommon - Between 30% and 50% cases

Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases

Gait ataxia Rigidity Seizures Depressivity Obsessive-compulsive behavior Bradykinesia Irritability Nystagmus Cognitive impairment Intellectual disability Anxiety Global developmental delay Fatigue Abnormality of extrapyramidal motor function Horizontal nystagmus Rheumatoid arthritis Brisk reflexes Limb dystonia Abnormality of the cerebral white matter Dementia Dysphagia Dysarthria Hyporeflexia Sleep disturbance Aggressive behavior Abnormal pyramidal sign Hyperactivity Myoclonus Dystonia Cerebellar atrophy Delayed speech and language development Muscle weakness Spasticity Parkinsonism Postural tremor Abnormal cerebellum morphology Hypothyroidism Behavioral abnormality Hearing impairment Babinski sign Slurred speech Abnormality of movement

Rare Symptoms - Less than 30% cases

Acidosis Tetraparesis Neuronal loss in central nervous system Hepatic steatosis Cirrhosis Cerebral atrophy Involuntary movements Feeding difficulties Spastic diplegia Hypertonia Myopathy Resting tremor Obsessive-compulsive trait Generalized hypotonia Progressive encephalopathy Brain atrophy Progressive cerebellar ataxia Urinary incontinence Limb ataxia Thrombocytopenia Apathy Memory impairment Abnormality of the nervous system Microcephaly Vomiting Neurodegeneration Pain Gaze-evoked nystagmus Dysmetria Ophthalmoplegia Motor delay Stroke Restlessness Autism Muscular hypotonia Hepatomegaly Chorea Pes cavus Abnormality of the substantia nigra Transient hyperphenylalaninemia Decreased CSF homovanillic acid Progressive flexion contractures Generalized dystonia Impaired vibration sensation in the lower limbs Lower limb hyperreflexia Torticollis Talipes equinovarus Weight loss Scoliosis Progressive external ophthalmoplegia Ophthalmoparesis Ragged-red muscle fibers EMG abnormality Myalgia Intellectual disability, severe Peripheral neuropathy Paresis of extensor muscles of the big toe Focal dystonia Polyneuropathy Hypokinesia Episodic vomiting Pill-rolling tremor Cerebral cortical atrophy Head tremor Upper limb undergrowth Proximal muscle weakness Distal sensory impairment Severe lactic acidosis Postural instability Cerebellar vermis atrophy Bronchitis Muscle fibrillation Hypothermia Recurrent singultus Hypotension Intention tremor Abnormal autonomic nervous system physiology Paraparesis Spastic paraparesis Dysdiadochokinesis Premature ovarian insufficiency Mask-like facies Impotence Agitation Global brain atrophy Severe failure to thrive Bowel incontinence Decreased activity of mitochondrial respiratory chain Episodic ketoacidosis Mitochondrial myopathy Abnormal involuntary eye movements Aciduria Intellectual disability, profound Hypsarrhythmia Choreoathetosis Hepatocellular necrosis Periportal fibrosis Frequent temper tantrums Suicidal ideation Neuronal loss in basal ganglia Leukopenia Poor suck Micronodular cirrhosis Impulsivity Infantile spasms Nonketotic hyperglycinemia Weak cry Mania Paranoia Testicular atrophy Dilated fourth ventricle Generalized aminoaciduria Ketoacidosis Chronic bronchitis Hyperglycinemia Vertical supranuclear gaze palsy Hyperglycinuria Posterior fossa cyst Delirium Abnormality of the thyroid gland Atrophy/Degeneration affecting the brainstem Hepatic failure Type II diabetes mellitus Growth delay Failure to thrive Metabolic acidosis Edema Hyperkinesis Schizophrenia Clumsiness Broad-based gait Splenomegaly Jaundice Hypoglycemia Elevated hepatic transaminase Progressive neurologic deterioration Generalized-onset seizure Subcortical dementia Gliosis Falls Infertility Abnormality of eye movement Feeding difficulties in infancy Coma Cough Arthritis Diabetes mellitus Ventriculomegaly Anemia Abnormality of the liver Lactic acidosis Impaired tandem gait Inertia Bipolar affective disorder Kinetic tremor Urinary bladder sphincter dysfunction Action tremor Diffuse cerebral atrophy Olivopontocerebellar atrophy Abnormality of the coagulation cascade Hyponatremia Portal hypertension Astrocytosis Hypoalbuminemia Abnormal conjugate eye movement External ophthalmoplegia Aminoaciduria Disinhibition Hyperbilirubinemia Retrocollis Dysesthesia Cholestasis Ascites Akinesia Personality changes Saccadic smooth pursuit Poor fine motor coordination Pollakisuria Abnormality of brainstem morphology Abnormal nerve conduction velocity Incoordination Impaired distal vibration sensation Diffuse cerebellar atrophy Depletion of mitochondrial DNA in liver Diffuse leukoencephalopathy Neutropenia Increased intramyocellular lipid droplets Rhabdomyolysis Thyroiditis Hashimoto thyroiditis Hypomagnesemia Heat intolerance Graves disease Abnormality of peripheral nerve conduction Urinary retention Periodic paralysis Abnormality of muscle fibers Postprandial hyperglycemia Impaired myocardial contractility Shortened PR interval Periodic hypokalemic paresis Prolonged QT interval Exercise-induced muscle fatigue Late-onset proximal muscle weakness Respiratory paralysis Episodic flaccid weakness Second degree atrioventricular block Thyrotoxicosis with diffuse goiter Episodic hypokalemia Decreased urinary potassium Transient hypophosphatemia Thyrotoxicosis with toxic single thyroid nodule Thyrotoxicosis with toxic multinodular goitre Respiratory insufficiency Respiratory failure Coarse facial features Hyperthyroidism Mildly elevated creatine phosphokinase Respiratory tract infection Increased adipose tissue Congestive heart failure Abnormality of cardiovascular system morphology Dyspnea Hypertrophic cardiomyopathy Dilated cardiomyopathy Chest pain Increased serum lactate Febrile seizures Exercise intolerance Multiple lipomas Progressive sensorineural hearing impairment Mild global developmental delay Lower limb pain Increased serum pyruvate Obesity Hyperkalemia Constipation Hyperhidrosis Proptosis Paralysis Lower limb muscle weakness Tachycardia Muscle cramps Tetraplegia Palpitations Muscle stiffness Goiter Hypokalemia Myotonia Ventricular fibrillation Developmental regression Status epilepticus Lethargy Writer's cramp Arteriosclerosis of small cerebral arteries Difficulty walking Hyperlordosis Spastic paraplegia Paraplegia Confusion Cerebral palsy Dysphonia Hyperactive deep tendon reflexes Upper motor neuron dysfunction Torsion dystonia Parkinsonism with favorable response to dopaminergic medication Oromandibular dystonia Axial dystonia Sensorineural hearing impairment Infantile encephalopathy Fixed facial expression Optic atrophy Hypoplasia of the corpus callosum Hydrocephalus Intellectual disability, mild Visual loss Agenesis of corpus callosum Neonatal hypotonia Intellectual disability, moderate Apnea Autistic behavior Attention deficit hyperactivity disorder Severe global developmental delay Diffuse demyelination of the cerebral white matter Pseudobulbar signs Hypertriglyceridemia Sparse hair Insulin resistance Generalized hirsutism Acanthosis nigricans Lipodystrophy Hyperinsulinemia Reduced subcutaneous adipose tissue Loss of speech Generalized lipodystrophy Progressive psychomotor deterioration Caudate atrophy Poor motor coordination Reduced intraabdominal adipose tissue Alopecia Osteoporosis Unsteady gait Knee pain Peripheral demyelination Hemiparesis Diplopia Spastic gait Leukoencephalopathy Back pain Emotional lability Urinary urgency Stroke-like episode Spastic ataxia Low back pain Arteriosclerosis Pseudobulbar paralysis Diffuse white matter abnormalities Oral motor hypotonia


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