Ataxia, and Hypotension

Diseases related with Ataxia and Hypotension

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


Top matches:

Low match PARKINSON DISEASE, LATE-ONSET; PD


Parkinson disease was first described by James Parkinson in 1817. It is the second most common neurodegenerative disorder after Alzheimer disease (AD ), affecting approximately 1% of the population over age 50 (Polymeropoulos et al., 1996). ReviewsWarner and Schapira (2003) reviewed the genetic and environmental causes of Parkinson disease. Feany (2004) reviewed the genetics of Parkinson disease and provided a speculative model of interactions among proteins implicated in PD. Lees et al. (2009) provided a review of Parkinson disease, with emphasis on diagnosis, neuropathology, and treatment. Genetic Heterogeneity of Parkinson DiseaseSeveral loci for autosomal dominant Parkinson disease have been identified, including PARK1 (OMIM ) and PARK4, caused by mutation in or triplication of the alpha-synuclein gene (SNCA ), respectively, on 4q22; PARK5 (OMIM ), caused by mutation in the UCHL1 gene on 4p13; PARK8 (OMIM ), caused by mutation in the LRRK2 gene (OMIM ) on 12q12; PARK11 (OMIM ), caused by mutation in the GIGYF2 gene (OMIM ) on 2q37; PARK13 (OMIM ), caused by mutation in the HTRA2 gene (OMIM ) on 2p13; PARK17 (OMIM ), caused by mutation in the VPS35 gene (OMIM ) on 16q11; and PARK18 (OMIM ), caused by mutation in the EIF4G1 gene (OMIM ) on 3q27.Several loci for autosomal recessive early-onset Parkinson disease have been identified: PARK2 (OMIM ), caused by mutation in the gene encoding parkin (PARK2 ) on 6q26; PARK6 (OMIM ), caused by mutation in the PINK1 gene (OMIM ) on 1p36; PARK7 (OMIM ), caused by mutation in the DJ1 gene (PARK7 ) on 1p36; PARK14 (OMIM ), caused by mutation in the PLA2G6 gene (OMIM ) on 22q13; PARK15 (OMIM ), caused by mutation in the FBXO7 gene (OMIM ) on 22q12-q13; PARK19A (OMIM ) and PARK19B (see {615528}), caused by mutation in the DNAJC6 gene (OMIM ) on 1p32; and PARK20 (OMIM ), caused by mutation in the SYNJ1 gene (OMIM ) on 21q22.PARK3 (OMIM ) has been mapped to chromosome 2p13; PARK10 (OMIM ) has been mapped to chromosome 1p34-p32; PARK16 (OMIM ) has been mapped to chromosome 1q32. See also PARK21 (OMIM ). A locus on the X chromosome has been identified (PARK12 ). There is also evidence that mitochondrial mutations may cause or contribute to Parkinson disease (see {556500}). Susceptibility to the development of the more common late-onset form of Parkinson disease has been associated with polymorphisms or mutations in several genes, including GBA (OMIM ), MAPT (OMIM ), MC1R (OMIM ), ADH1C (OMIM ), and genes at the HLA locus (see, e.g., HLA-DRA, {142860}). Each of these risk factors independently may have a modest effect on disease development, but together may have a substantial cumulative effect (Hamza et al., 2010).Susceptibility to PD may also be conferred by expanded trinucleotide repeats in several genes causing other neurologic disorders usually characterized by spinocerebellar ataxia (SCA), including the ATXN2 (OMIM ), ATXN3 (OMIM ), TBP (OMIM ), and ATXN8OS (OMIM ) genes.

PARKINSON DISEASE, LATE-ONSET; PD Is also known as park

Related symptoms:

  • Ataxia
  • Cognitive impairment
  • Dysarthria
  • Tremor
  • Dysphagia


SOURCES: OMIM MENDELIAN

More info about PARKINSON DISEASE, LATE-ONSET; PD

Low match MULTIPLE SYSTEM ATROPHY, PARKINSONIAN TYPE


Multiple system atrophy, parkinsonian type (MSA-p) is a form of multiple system atrophy (MSA; see this term) with predominant parkinsonian features (bradykinesia, rigidity, irregular jerky postural tremor, and postural instability).

MULTIPLE SYSTEM ATROPHY, PARKINSONIAN TYPE Is also known as msa-p|msa, parkinsonian type

Related symptoms:

  • Dysarthria
  • Depressivity
  • Constipation
  • Gait ataxia
  • Rigidity


SOURCES: ORPHANET MENDELIAN

More info about MULTIPLE SYSTEM ATROPHY, PARKINSONIAN TYPE

Low match MULTIPLE SYSTEM ATROPHY, CEREBELLAR TYPE


Multiple system atrophy, cerebellar type (MSA-c) is a form of multiple system atrophy (MSA; see this term) with predominant cerebellar features (gait and limb ataxia, oculomotor dysfunction, and dysarthria).

MULTIPLE SYSTEM ATROPHY, CEREBELLAR TYPE Is also known as sporadic olivopontocerebellar atrophy type 1|msa, cerebellar type|sporadic opca type 1|msa-c

Related symptoms:

  • Dysarthria
  • Depressivity
  • Constipation
  • Gait ataxia
  • Rigidity


SOURCES: ORPHANET MENDELIAN

More info about MULTIPLE SYSTEM ATROPHY, CEREBELLAR TYPE

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Other less relevant matches:

Low match SPINOCEREBELLAR ATAXIA TYPE 34


Spinocerebellar ataxia type 34 (SCA34) is a subtype of autosomal dominant cerebellar ataxia type I (ADCA type I; see this term), characterized by papulosquamous, ichthyosiform plaques on the limbs appearing shortly after birth and later manifestations including progressive ataxia, dysarthria, nystagmus and decreased reflexes.

SPINOCEREBELLAR ATAXIA TYPE 34 Is also known as erythrokeratodermia with ataxia|sca34|spinocerebellar ataxia and erythrokeratodermia

Related symptoms:

  • Ataxia
  • Nystagmus
  • Strabismus
  • Spasticity
  • Hyperreflexia


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about SPINOCEREBELLAR ATAXIA TYPE 34

Low match HYDROXYKYNURENINURIA


Encephalopathy due to hydroxykynureninuria is characterised by psychomotor retardation and nonprogressive encephalopathy associated with urinary excretion of large amounts of kynurenine, 3-hydroxykynurenine, and xanthurenic acid. It has been described in less than 30 patients. Other manifestations may include muscular hypertonia, headaches and stereotyped gestures. This disorder is transmitted as an autosomal recessive trait. It is caused by a defect in kynureninase, an enzyme of the tryptophane catabolic pathway.

HYDROXYKYNURENINURIA Is also known as kynureninase deficiency, partial|kynureninase deficiency|xanthurenic aciduria

Related symptoms:

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


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about HYDROXYKYNURENINURIA

Low match PARTIAL LIPODYSTROPHY, CONGENITAL CATARACTS, AND NEURODEGENERATION SYNDROME; LCCNS


PARTIAL LIPODYSTROPHY, CONGENITAL CATARACTS, AND NEURODEGENERATION SYNDROME; LCCNS Is also known as lipodystrophy, partial, with congenital cataracts and neurodegeneration

Related symptoms:

  • Ataxia
  • Nystagmus
  • Micrognathia
  • Cataract
  • Babinski sign


SOURCES: OMIM MENDELIAN

More info about PARTIAL LIPODYSTROPHY, CONGENITAL CATARACTS, AND NEURODEGENERATION SYNDROME; LCCNS

Low match NEUROFERRITINOPATHY


Neuroferritinopathy is a late-onset type of neurodegeneration with brain iron accumulation (NBIA; see this term) characterized by progressive chorea or dystonia and subtle cognitive deficits.

NEUROFERRITINOPATHY Is also known as neuroferritinopathy|ferritin-related neurodegeneration|hereditary ferritinopathy|adult basal ganglia disease|basal ganglia disease, adult-onset

Related symptoms:

  • Intellectual disability
  • Seizures
  • Generalized hypotonia
  • Ataxia
  • Spasticity


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about NEUROFERRITINOPATHY

Low match ADULT-ONSET AUTOSOMAL DOMINANT LEUKODYSTROPHY


Adult-onset autosomal dominant leukodystrophy (ADLD) is a rare slowly progressive neurological disorder involving centralnervous systemdemyelination, leading to autonomic dysfunction,ataxia and mild cognitive impairment.

ADULT-ONSET AUTOSOMAL DOMINANT LEUKODYSTROPHY Is also known as adld|adult-onset autosomal dominant demyelinating leukodystrophy|pelizaeus-merzbacher disease, autosomal dominant or late-onset type, formerly

Related symptoms:

  • Global developmental delay
  • Hearing impairment
  • Ataxia
  • Nystagmus
  • Spasticity


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about ADULT-ONSET AUTOSOMAL DOMINANT LEUKODYSTROPHY

Low match LEGIONNAIRE DISEASE, SUSCEPTIBILITY TO


Legionnaire disease (LD) is a type of pneumonia caused by Legionella pneumophila, a flagellated gram-negative bacterium found primarily in warm water environments. The disease and the bacterium were discovered following an outbreak traced to a 1976 American Legion convention in Philadelphia. A number of risk factors for acquiring LD have been identified, including age, smoking, chronic lung disease, cancer, and immunosuppression (summary by Hawn et al., 2003).

Related symptoms:

  • Ataxia
  • Neoplasm
  • Muscle weakness
  • Pain
  • Peripheral neuropathy


SOURCES: ORPHANET OMIM MENDELIAN

More info about LEGIONNAIRE DISEASE, SUSCEPTIBILITY TO

Low match METACHROMATIC LEUKODYSTROPHY, ADULT FORM


METACHROMATIC LEUKODYSTROPHY, ADULT FORM Is also known as arylsulfatase a deficiency, adult form|mld, adult form

Related symptoms:

  • Seizures
  • Generalized hypotonia
  • Muscle weakness
  • Spasticity
  • Dysarthria


SOURCES: ORPHANET MENDELIAN

More info about METACHROMATIC LEUKODYSTROPHY, ADULT FORM

Top 5 symptoms//phenotypes associated to Ataxia and Hypotension

Symptoms // Phenotype % cases
Dysarthria Common - Between 50% and 80% cases
Constipation Common - Between 50% and 80% cases
Spasticity Uncommon - Between 30% and 50% cases
Depressivity Uncommon - Between 30% and 50% cases
Abnormal pyramidal sign Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Rigidity Babinski sign Orthostatic hypotension Abnormal autonomic nervous system physiology Orthostatic hypotension due to autonomic dysfunction Progressive cerebellar ataxia Bradykinesia Gait ataxia Parkinsonism Dysphagia Autonomic erectile dysfunction Autonomic bladder dysfunction Orofacial dyskinesia Hypertonia Vomiting Apathy Frequent falls Dystonia Dementia Limb ataxia Resting tremor Tremor Hallucinations Postural instability Personality changes Nystagmus Urinary incontinence Gait disturbance Hyperreflexia

Rare Symptoms - Less than 30% cases


Headache Intention tremor Hypohidrosis Dry skin Global developmental delay Intellectual disability Encephalopathy Abnormality of the musculature Leukodystrophy Seizures Jaundice Developmental regression Emotional lability Schizophrenia Bowel incontinence Confusion Chorea Abnormal cerebellum morphology Mental deterioration Lower limb muscle weakness Difficulty walking Cognitive impairment Peripheral neuropathy Optic atrophy Generalized hypotonia Muscle weakness Pancreatitis Abnormality of movement Hearing impairment Hyporeflexia Dysphonia Gaze-evoked nystagmus Axial dystonia Postural tremor Stridor Anxiety Micrographia Raynaud phenomenon Central sleep apnea Abnormal rapid eye movement sleep Camptocormia Orthostatic syncope Female anorgasmia Urinary urgency Abnormal brain FDG positron emission tomography Abnormal social behavior Limb muscle weakness Cholecystitis Vegetative state Diffuse leukoencephalopathy Cervical spinal cord atrophy Gliosis Dilatation of the bladder Punctate periventricular T2 hyperintense foci Paraplegia Abnormality of the cerebral white matter Diffuse white matter abnormalities Decreased sweating due to autonomic dysfunction Symmetric peripheral demyelination Neoplasm Abnormality of proteoglycan metabolism Pain Fever Fatigue Respiratory insufficiency Progressive peripheral neuropathy Atrophy of the spinal cord Leukoencephalopathy Hemiparesis Spastic tetraparesis Abnormality of the urinary system Progressive psychomotor deterioration Impotence Spastic paraparesis Paraparesis Progressive spasticity Abnormality of glycosphingolipid metabolism Progressive neurologic deterioration Pseudobulbar paralysis Tetraparesis Action tremor Peripheral demyelination Heat intolerance Decerebrate rigidity Progressive spastic quadriplegia EMG: chronic denervation signs Corpus callosum atrophy Neurogenic bladder Respiratory distress Pneumonia Diarrhea Endocarditis Hemoptysis Cerebral cortical atrophy Short attention span Pulmonary infiltrates Myocarditis Chronic lung disease Reduced consciousness/confusion Recurrent pharyngitis Abnormality of the pleura Chills Bulbar signs Cellulitis Progressive gait ataxia Reduced visual acuity Abdominal distention Delusions Increased CSF protein Memory impairment Bilateral sensorineural hearing impairment Clumsiness Decreased nerve conduction velocity Loss of speech Pericarditis Restrictive ventilatory defect Splenomegaly Lymphadenopathy Renal insufficiency Arrhythmia Abnormality of visual evoked potentials Abdominal pain Respiratory failure Arthralgia Myalgia Proteinuria Cough Nausea and vomiting Nausea Hyponatremia Hematuria Sepsis Chest pain Migraine Hepatitis Abnormal lung morphology Anorexia Lymphopenia Bone marrow hypocellularity Shock Encephalitis Hypoglycemia Cerebral atrophy Visual loss Coma Urticaria Dysdiadochokinesis Macule Impaired smooth pursuit Supranuclear gaze palsy Supranuclear ophthalmoplegia Acidosis Tachycardia Metabolic acidosis Stereotypy Fasciculations Aminoaciduria Congenital sensorineural hearing impairment Renal tubular acidosis Progressive encephalopathy Renal tubular dysfunction Abnormality of the respiratory system Stomatitis Breathing dysregulation Nonprogressive encephalopathy Abnormality of tryptophan metabolism Macular degeneration Abnormality of the skin Cataract Short stepped shuffling gait Stroke Sleep disturbance Neuronal loss in central nervous system Mask-like facies Alzheimer disease Frontotemporal dementia Lewy bodies Kinetic tremor Weak voice Substantia nigra gliosis Broad-based gait Peripheral axonal neuropathy Downbeat nystagmus Neuromuscular dysphagia Strabismus Cerebellar atrophy Hyperkeratosis Erythema Neurological speech impairment Papule Ophthalmoplegia Facial asymmetry Micrognathia Rod-cone dystrophy Intellectual disability, mild Limb dystonia Dyskinesia Neurodegeneration Abnormality of extrapyramidal motor function Psychosis Choreoathetosis Involuntary movements Mutism Language impairment Oral-pharyngeal dysphagia Spastic diplegia Blepharospasm Unsteady gait Hypomimic face Disinhibition Laryngeal dystonia Abnormality of the basal ganglia Writer's cramp Anarthria Subcortical dementia Decreased serum ferritin Akinetic mutism Cavitation of the basal ganglia Retinal degeneration Abnormality of eye movement Retinopathy Acanthosis nigricans Congenital cataract Dysmetria Paresthesia Distal sensory impairment Pigmentary retinopathy Epidermal acanthosis Hypertriglyceridemia Abnormality of the face Insulin resistance Clonus Hyperlipidemia Myoclonus Hypercholesterolemia Lipodystrophy Glucose intolerance Brisk reflexes Absence of subcutaneous fat Loss of subcutaneous adipose tissue in limbs Lack of facial subcutaneous fat Decreased adipose tissue around neck Behavioral abnormality Abnormality of metabolism/homeostasis Neoplasm of the gallbladder



If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Optic atrophy and Cerebral calcification, related diseases and genetic alterations Skeletal muscle atrophy and Apnea, related diseases and genetic alterations Peripheral neuropathy and Blue sclerae, related diseases and genetic alterations Peripheral neuropathy and Macroglossia, related diseases and genetic alterations Cleft palate and Downturned corners of mouth, related diseases and genetic alterations Nystagmus and Cerebellar vermis hypoplasia, related diseases and genetic alterations

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