Ataxia, and Hypertension

Diseases related with Ataxia and Hypertension

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


Top matches:

Low match PSYCHOMOTOR REGRESSION-OCULOMOTOR APRAXIA-MOVEMENT DISORDER-NEPHROPATHY SYNDROME


PSYCHOMOTOR REGRESSION-OCULOMOTOR APRAXIA-MOVEMENT DISORDER-NEPHROPATHY SYNDROME Is also known as cerebrorenal syndrome, perez type

Related symptoms:

  • Intellectual disability
  • Generalized hypotonia
  • Ataxia
  • Strabismus
  • Muscle weakness


SOURCES: OMIM ORPHANET MENDELIAN

More info about PSYCHOMOTOR REGRESSION-OCULOMOTOR APRAXIA-MOVEMENT DISORDER-NEPHROPATHY SYNDROME

Low match CEREBRORETINAL MICROANGIOPATHY WITH CALCIFICATIONS AND CYSTS 2; CRMCC2


CRMCC2 is an autosomal recessive multisystem disorder characterized by premature aging, pancytopenia, hypocellular bone marrow, osteopenia, liver fibrosis, and vascular telangiectasia resulting in gastrointestinal bleeding. Brain imaging shows intracranial calcifications and leukodystrophy, which may result in neurologic signs including spasticity, ataxia, or dystonia. Patients may also have retinal telangiectasia (summary by Simon et al., 2016).For a discussion of genetic heterogeneity of CRMCC, see CRMCC1 (OMIM ).

Related symptoms:

  • Ataxia
  • Growth delay
  • Spasticity
  • Hypertension
  • Intrauterine growth retardation


SOURCES: OMIM MENDELIAN

More info about CEREBRORETINAL MICROANGIOPATHY WITH CALCIFICATIONS AND CYSTS 2; CRMCC2

Low match MITOCHONDRIAL DNA-RELATED CARDIOMYOPATHY AND HEARING LOSS


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

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Other less relevant matches:

Low match NEUROBLASTOMA


Neuroblastoma is a malignant tumor of neural crest cells, the cells that give rise to the sympathetic nervous system, which is observed in children.

Related symptoms:

  • Ataxia
  • Neoplasm
  • Failure to thrive
  • Pain
  • Anemia


SOURCES: ORPHANET OMIM MENDELIAN

More info about NEUROBLASTOMA

Low match AUTOSOMAL DOMINANT DOPA-RESPONSIVE DYSTONIA


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

Low match ARGININOSUCCINIC ACIDURIA


Argininosuccinic aciduria (ASA) is a disorder of urea cycle metabolism most commonly characterized by either a severe, neonatal-onset form that manifests with hyperammonemia accompanied with vomiting, hypothermia, lethargy and poor feeding in the first few days of life, or late-onset forms (any age outside the newborn period) that manifest with stress or infection-induced episodic hyperammonemia or, in some, behavioral abnormalities and/or learning disabilities. Patients often manifest liver dysfunction.

ARGININOSUCCINIC ACIDURIA Is also known as argininosuccinic acid lyase deficiency|asa deficiency|argininosuccinase deficiency|argininosuccinatelyase deficiency|argininosuccinate lyase deficiency|asl deficiency

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Ataxia


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about ARGININOSUCCINIC ACIDURIA

Low match FATAL FAMILIAL INSOMNIA


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

Low 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

Low match SEVERE NEURODEGENERATIVE SYNDROME WITH LIPODYSTROPHY


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

Top 5 symptoms//phenotypes associated to Ataxia and Hypertension

Symptoms // Phenotype % cases
Encephalopathy Uncommon - Between 30% and 50% cases
Intellectual disability Uncommon - Between 30% and 50% cases
Seizures Uncommon - Between 30% and 50% cases
Gait ataxia Uncommon - Between 30% and 50% cases
Spasticity Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Cognitive impairment Mental deterioration Tremor Cerebellar atrophy Hyperreflexia Global developmental delay Slurred speech Failure to thrive Fatigue Myoclonus Dystonia Delayed speech and language development

Rare Symptoms - Less than 30% cases


Sleep disturbance Anxiety Rigidity Hearing impairment Babinski sign Depressivity Fever Abnormality of extrapyramidal motor function Febrile seizures Abnormal pyramidal sign Pain Short stature Brisk reflexes Coma Nystagmus Dysarthria Dysphagia Alkalosis Hyperventilation Dementia Generalized tonic-clonic seizures Neurodegeneration Cirrhosis Limb dystonia Generalized hypotonia Memory impairment Neuronal loss in central nervous system Diplopia Hyperactivity Alopecia Vomiting Hepatomegaly Apathy Tetraparesis Weight loss Sensorineural hearing impairment Muscle weakness Gait disturbance Progressive encephalopathy Loss of speech Peripheral neuropathy Developmental regression Hypertriglyceridemia Impotence Agitation Hyperkinesis Stridor Dysmetria Insomnia Unsteady gait Urinary incontinence Peripheral demyelination Aphasia Abnormality of the cerebral white matter Ophthalmoplegia Urinary bladder sphincter dysfunction Hypothermia Hemiparesis Bulbar signs Dysuria Central apnea Astrocytosis Urinary retention Stroke Hypersomnia Abnormal autonomic nervous system physiology Hallucinations Spastic gait Confusion Diffuse demyelination of the cerebral white matter Diffuse leukoencephalopathy Pseudobulbar signs Knee pain Diffuse white matter abnormalities Constipation Pseudobulbar paralysis Hyperhidrosis Apnea Arteriosclerosis Tachycardia Leukoencephalopathy Inability to walk Low back pain Spastic ataxia Stroke-like episode Gliosis Gaze-evoked nystagmus Urinary urgency Emotional lability Progressive neurologic deterioration Back pain Sparse hair Delirium Snoring Osteoporosis Peripheral hypomyelination Reduced subcutaneous adipose tissue Abnormality of the renal tubule Hyperinsulinemia Increased circulating renin level Lipodystrophy Acanthosis nigricans Hypocalciuria Hypokalemic metabolic alkalosis Chronic axonal neuropathy Renal potassium wasting Salt craving Hyperglutaminemia Renal sodium wasting Respiratory insufficiency Myopathy Hypertonia Cerebral atrophy Respiratory failure Coarse facial features Respiratory tract infection Generalized hirsutism Hepatic steatosis Status epilepticus Abnormality of the mitochondrion Metabolic alkalosis Reduced intraabdominal adipose tissue Metabolic acidosis Insulin resistance Poor motor coordination Muscular hypotonia Caudate atrophy Progressive psychomotor deterioration Generalized lipodystrophy Motor delay Acidosis Proteinuria Intellectual disability, moderate Peripheral axonal neuropathy Postural instability Enuresis Generalized-onset seizure Intention tremor CNS hypomyelination Hypokalemia Dysdiadochokinesis Polydipsia Polyuria Glycosuria Hyperaldosteronism Hypomagnesemia Renal salt wasting Episodic ammonia intoxication Attention deficit hyperactivity disorder Protein avoidance Chest pain Portal hypertension Premature graying of hair Abnormality of the vasculature Esophageal varix Retinal telangiectasia Intellectual disability, severe Congestive heart failure Abnormality of cardiovascular system morphology Dyspnea Myalgia Hypertrophic cardiomyopathy Dilated cardiomyopathy Increased serum lactate Telangiectasia EMG abnormality Exercise intolerance Ragged-red muscle fibers Ophthalmoparesis Multiple lipomas Progressive sensorineural hearing impairment Progressive external ophthalmoplegia Mild global developmental delay Lower limb pain Increased serum pyruvate Increased adipose tissue Neoplasm Anemia Leukodystrophy Pancytopenia Abdominal pain Choreoathetosis Strabismus Ptosis Renal insufficiency Difficulty walking Muscular hypotonia of the trunk Abnormality of the eye Abnormality of eye movement Stage 5 chronic kidney disease Falls Dyskinesia Nephropathy Apraxia Frequent falls Cerebral calcification Amblyopia Truncal ataxia Oculomotor apraxia Nephritis Hyperkalemia Limb hypertonia Tubulointerstitial nephritis Hyperechogenic kidneys Camptocormia Growth delay Intrauterine growth retardation Osteopenia Gastrointestinal hemorrhage Diarrhea Cafe-au-lait spot Hypoargininemia Aciduria Progressive flexion contractures Decreased CSF homovanillic acid Transient hyperphenylalaninemia Abnormality of the substantia nigra Paresis of extensor muscles of the big toe Edema EEG abnormality Feeding difficulties in infancy Irritability Abnormality of the liver Scarring Lethargy Decreased liver function Generalized dystonia Hepatic fibrosis Aminoaciduria Intellectual disability, progressive Tachypnea Hyperammonemia Brittle hair Increased reactive oxygen species production Cerebral edema Dry hair Trichorrhexis nodosa Abnormal hair quantity Oroticaciduria Respiratory alkalosis Focal dystonia Impaired vibration sensation in the lower limbs Bone pain Elevated urinary dopamine Abnormality of the thorax Neurofibromas Neuroblastoma Spinal cord compression Skin nodule Paraganglioma Ganglioneuroma Neoplasm of the nervous system Horner syndrome Ganglioneuroblastoma Adrenal calcification Opsoclonus Abdominal mass Elevated urinary catecholamines Lower limb hyperreflexia Elevated urinary homovanillic acid Elevated urinary vanillylmandelic acid Scoliosis Talipes equinovarus Pes cavus Hypothyroidism Parkinsonism Bradykinesia Horizontal nystagmus Torticollis Rheumatoid arthritis Obsessive-compulsive behavior Postural tremor Arteriosclerosis of small cerebral arteries



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