Hypertension, and Gait ataxia

Diseases related with Hypertension and Gait ataxia

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

Top matches:

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

Fatal familial insomnia (FFI) is a very rare form of prion disease (see this term) characterized by subacute onset of insomnia showing as a reduced overall sleep time, autonomic dysfunction, and motor disturbances.

FATAL FAMILIAL INSOMNIA Is also known as insomnia, fatal familial

Related symptoms:

  • Seizures
  • Ataxia
  • Nystagmus
  • Spasticity
  • Hypertension


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about FATAL FAMILIAL INSOMNIA

Medium match EAST SYNDROME

SeSAME syndrome is characterized by seizures, sensorineural deafness, ataxia, intellectual deficit, and electrolyte imbalance (hypokalemia, metabolic alkalosis, and hypomagnesemia).

EAST SYNDROME Is also known as sesame syndrome|epilepsy-ataxia-sensorineural deafness-tubulopathy syndrome|seizures-sensorineural deafness-ataxia-intellectual disability-electrolyte imbalance syndrome|east syndrome|epilepsy, ataxia, sensorineural deafness, and tubulopathy

Related symptoms:

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


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about EAST SYNDROME

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

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

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

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

Bilateral striopallidodentate calcinosis (BSPDC, also erroneously called Fahr disease) is characterized by the accumulation of calcium deposits in different brain regions, particularly the basal ganglia and dentate nucleus, and is often associated with neurodegeneration.

BILATERAL STRIOPALLIDODENTATE CALCINOSIS Is also known as cerebrovascular ferrocalcinosis|primary familial brain calcification|ferrocalcinosis, cerebrovascular|pfbc|bspdc|striopallidodentate calcinosis, bilateral|cerebral calcification, nonarteriosclerotic, idiopathic, adult-onset|basal ganglia calcification, id

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about BILATERAL STRIOPALLIDODENTATE CALCINOSIS

3q29 microdeletion syndrome is a recurrent subtelomeric deletion syndrome with variable clinical manifestations including intellectual deficit and dysmorphic features.

3Q29 MICRODELETION SYNDROME Is also known as del(3)(q29)|microdeletion 3q29 syndrome|3q subtelomere deletion syndrome|monosomy 3q29|monosomy 3qter|3qter deletion

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Microcephaly
  • Ataxia
  • Failure to thrive


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about 3Q29 MICRODELETION SYNDROME

Medium match DPM1-CDG

The CDG (Congenital Disorders of Glycosylation) syndromes are a group of autosomal recessive disorders affecting glycoprotein synthesis. CDG syndrome type Ie is characterised by psychomotor delay, seizures, hypotonia, facial dysmorphism and microcephaly. Ocular anomalies are also very common.

DPM1-CDG Is also known as cdg1e|cdg syndrome type ie|congenital disorder of glycosylation type 1e|carbohydrate deficient glycoprotein syndrome type ie|cdg-ie|congenital disorder of glycosylation type ie|cdgie|dol-p-mannosyltransferase deficiency|cdg ie

Related symptoms:

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


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about DPM1-CDG

Top 5 symptoms//phenotypes associated to Hypertension and Gait ataxia

Symptoms // Phenotype % cases
Ataxia Very Common - Between 80% and 100% cases
Tremor Common - Between 50% and 80% cases
Intellectual disability Common - Between 50% and 80% cases
Depressivity Common - Between 50% and 80% cases
Seizures Common - Between 50% and 80% cases

Other less frequent symptoms

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

Common Symptoms - More than 50% cases

Global developmental delay

Uncommon Symptoms - Between 30% and 50% cases

Anxiety

Common Symptoms - More than 50% cases

Cerebellar atrophy

Uncommon Symptoms - Between 30% and 50% cases

Hyperreflexia Cognitive impairment Gait disturbance Rigidity Bradykinesia Mental deterioration Encephalopathy Nystagmus Dysarthria Dysphagia Progressive neurologic deterioration Delayed speech and language development Neuronal loss in central nervous system Dystonia Abnormal cerebellum morphology Hearing impairment Abnormal pyramidal sign Abnormality of movement Dementia Motor delay Parkinsonism Fatigue Obsessive-compulsive behavior Irritability Memory impairment Bipolar affective disorder Abnormality of extrapyramidal motor function Sleep disturbance Slurred speech Hypothyroidism Behavioral abnormality Aggressive behavior Hyperactivity Microcephaly Hepatomegaly Dysdiadochokinesis Intention tremor Postural instability Failure to thrive Gliosis Horizontal nystagmus Rheumatoid arthritis Spasticity Focal dystonia Lower limb hyperreflexia Dysmetria Brisk reflexes Postural tremor Limb dystonia Myoclonus

Rare Symptoms - Less than 30% cases

Patent ductus arteriosus Chorea Psychosis Ventriculomegaly Schizophrenia Mask-like facies Generalized-onset seizure Upper limb undergrowth Intellectual disability, moderate Downslanted palpebral fissures Peripheral neuropathy Hypertonia Clumsiness Cerebral atrophy Urinary incontinence Respiratory tract infection Autism Progressive encephalopathy Brain atrophy Involuntary movements Resting tremor Progressive cerebellar ataxia Abnormality of the cerebral white matter Broad-based gait Prominent nasal bridge Obsessive-compulsive trait Pain Micrognathia Myopathy Muscular hypotonia Paresis of extensor muscles of the big toe Generalized dystonia Astrocytosis Urinary bladder sphincter dysfunction Progressive flexion contractures Decreased CSF homovanillic acid Transient hyperphenylalaninemia Abnormality of the substantia nigra Impotence Torticollis Agitation Apathy Weight loss Hyperkinesis Apnea Abnormal autonomic nervous system physiology Generalized tonic-clonic seizures Confusion Impaired vibration sensation in the lower limbs Neurodegeneration Pes cavus Babinski sign Generalized hypotonia Scoliosis Talipes equinovarus Lewy bodies Corneal opacity Short nose Dyskinesia Microphthalmia Hernia Hypospadias Pectus excavatum Reduced protein C activity Vertigo Reduced antithrombin III activity Abnormal macular morphology Clinodactyly Neurological speech impairment Abnormality of the liver Cerebral calcification Basal ganglia calcification Paralysis Thrombocytopenia Headache Inguinal hernia Clinodactyly of the 5th finger Hypoglycosylation of alpha-dystroglycan Posteriorly rotated ears Macrotia Pontocerebellar atrophy Gastroesophageal reflux Thin upper lip vermilion Abnormality of neuronal migration Abnormality of the dentition Abnormal lower motor neuron morphology Oral-pharyngeal dysphagia Calcinosis Orofacial dyskinesia Pseudohypoparathyroidism Athetosis Alcoholism Mood swings Emotional lability Subcutaneous hemorrhage Limb dysmetria Focal motor seizures Micrographia Progressive choreoathetosis Pill-rolling tremor Frontal bossing Joint laxity Dense calcifications in the cerebellar dentate nucleus Muscle stiffness Abnormal facial shape Cleft palate Cataract Low-set ears High palate Epicanthus Macrocephaly Choreoathetosis Frontotemporal dementia Calcification of the small brain vessels Type I transferrin isoform profile Cleft lip Intellectual disability, severe EEG abnormality Prominent forehead Elevated serum creatine phosphokinase Absent speech Recurrent infections Splenomegaly Edema Abnormality of the eye Respiratory distress Optic atrophy Hemangioma Abnormality of vision Depressed nasal bridge Poor suck Trigonocephaly Elevated hepatic transaminase Camptodactyly Increased variability in muscle fiber diameter Knee flexion contracture Telangiectasia Postnatal microcephaly Febrile seizures Nail dysplasia Dental malocclusion Cerebral visual impairment Truncal ataxia Delayed myelination Retinopathy Small hand Venous thrombosis High, narrow palate Short palm Smooth philtrum Severe global developmental delay Muscular dystrophy Flat occiput Feeding difficulties Attention deficit hyperactivity disorder Oral cleft Deep venous thrombosis Single transverse palmar crease Tapered finger Everted lower lip vermilion Long face Prolonged partial thromboplastin time Abnormality of skin pigmentation Joint hyperflexibility Pulmonary arterial hypertension Facial asymmetry Abnormal myelination Pulmonic stenosis Small for gestational age Decreased liver function Pectus carinatum Short philtrum Prominent nose Dental crowding Flexion contracture Broad face Strabismus Weak cry Ankle contracture Hypertelorism Growth delay Six lumbar vertebrae Subvalvular aortic stenosis Shallow orbits Stereotypy Nasal speech Sandal gap Horseshoe kidney Narrow face Aspiration Aortic valve stenosis Anorexia Intrauterine growth retardation Global brain atrophy Oral motor hypotonia Renal potassium wasting Coarse facial features Respiratory failure Respiratory insufficiency Renal sodium wasting Salt craving Peripheral hypomyelination Chronic axonal neuropathy Cirrhosis Hypokalemic metabolic alkalosis Hypocalciuria Increased circulating renin level Abnormality of the renal tubule Abnormality of the mitochondrion Metabolic alkalosis Developmental regression Hepatic steatosis Alkalosis Reduced subcutaneous adipose tissue Reduced intraabdominal adipose tissue Poor motor coordination Caudate atrophy Progressive psychomotor deterioration Generalized lipodystrophy Loss of speech Hyperinsulinemia Status epilepticus Lipodystrophy Acanthosis nigricans Generalized hirsutism Insulin resistance Hypertriglyceridemia Tetraparesis Enuresis Renal salt wasting Hyperlordosis Hallucinations Bulbar signs Hypothermia Hyperventilation Insomnia Aphasia Stridor Diplopia Central apnea Coma Inability to walk Tachycardia Hyperhidrosis Constipation Fever Dysuria Urinary retention Hypomagnesemia Metabolic acidosis Hyperaldosteronism Glycosuria Polyuria Polydipsia Hypokalemia CNS hypomyelination Peripheral axonal neuropathy Hypersomnia Proteinuria Acidosis Vomiting Sensorineural hearing impairment Short stature Snoring Delirium Difficulty walking Spastic paraplegia Frequent temper tantrums Impaired tandem gait Infertility Abnormality of eye movement Cough Arthritis Diabetes mellitus Anemia Subcortical dementia Type II diabetes mellitus Inertia Retrocollis Diffuse cerebellar atrophy Impaired distal vibration sensation Abnormal nerve conduction velocity Abnormality of brainstem morphology Falls Incoordination Poor fine motor coordination Dilated fourth ventricle Suicidal ideation Neuronal loss in basal ganglia Abnormal involuntary eye movements Mania Paranoia Testicular atrophy Chronic bronchitis Personality changes Head tremor Restlessness Cerebellar vermis atrophy Bronchitis Muscle fibrillation Hypokinesia Akinesia Pollakisuria Saccadic smooth pursuit Paraplegia Parkinsonism with favorable response to dopaminergic medication Muscle weakness Fixed facial expression Infantile encephalopathy Axial dystonia Writer's cramp Oromandibular dystonia Torsion dystonia Cerebral cortical atrophy Upper motor neuron dysfunction Hyperactive deep tendon reflexes Gaze-evoked nystagmus Spastic diplegia Dysphonia Cerebral palsy Hyporeflexia Proximal muscle weakness Dysesthesia Abnormality of the thyroid gland Kinetic tremor Disinhibition Olivopontocerebellar atrophy Diffuse cerebral atrophy Action tremor Atrophy/Degeneration affecting the brainstem Bowel incontinence Myalgia Premature ovarian insufficiency Spastic paraparesis Paraparesis Limb ataxia Hypotension Distal sensory impairment Stroke Reduced protein S activity


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