Ataxia, and Syncope

Diseases related with Ataxia and Syncope

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


Top matches:

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

Low match MULTIPLE SYSTEM ATROPHY 1, SUSCEPTIBILITY TO; MSA1


Multiple system atrophy (MSA) is a distinct clinicopathologic entity that manifests as a progressive adult-onset neurodegenerative disorder causing parkinsonism, cerebellar ataxia, and autonomic, urogenital, and pyramidal dysfunction in various combinations. Two main subtypes are recognized: 'subtype C,' characterized predominantly by cerebellar ataxia, and 'subtype P,' characterized predominantly by parkinsonism. MSA is characterized pathologically by the degeneration of striatonigral and olivopontocerebellar structures and glial cytoplasmic inclusions (GCIs) that consist of abnormally phosphorylated alpha-synuclein (SNCA ) or tau (MAPT ) (Gilman et al., 1998; Gilman et al., 2008; Scholz et al., 2009). 'Subtype C' of MSA has been reported to be more prevalent than 'subtype P' in the Japanese population (65-67% vs 33-35%), whereas 'subtype P' has been reported to be more prevalent than 'subtype C' in Europe (63% vs 34%) and North America (60% vs 13%, with 27% of cases unclassified) (summary by The Multiple-System Atrophy Research Collaboration, 2013).MSA is similar clinically and pathologically to Parkinson disease (PD ) and Lewy body dementia (OMIM ). See also PARK1 (OMIM ), which is specifically caused by mutation in the SNCA gene.Pure autonomic failure manifests as orthostatic hypotension and other autonomic abnormalities without other neurologic involvement. Although there is some phenotypic overlap, the relationship of pure autonomic failure to MSA is unclear (Vanderhaeghen et al., 1970; Schatz, 1996).

MULTIPLE SYSTEM ATROPHY 1, SUSCEPTIBILITY TO; MSA1 Is also known as msa1, susceptibility to

Related symptoms:

  • Ataxia
  • Ptosis
  • Cognitive impairment
  • Hyperreflexia
  • Dysarthria


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about MULTIPLE SYSTEM ATROPHY 1, SUSCEPTIBILITY TO; MSA1

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Other less relevant matches:

Low match MICROGNATHIA-RECURRENT INFECTIONS-BEHAVIORAL ABNORMALITIES-MILD INTELLECTUAL DISABILITY SYNDROME


Autosomal dominant mental retardation-44 is characterized by mildly delayed global development, resulting in variable intellectual deficits or learning difficulties, distinctive facial features, and abnormalities of the fingers, particularly brachydactyly, tapering fingers, and broad interphalangeal joints. Most patients also have microcephaly; additional features are highly variable (summary by Ba et al., 2016).

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about MICROGNATHIA-RECURRENT INFECTIONS-BEHAVIORAL ABNORMALITIES-MILD INTELLECTUAL DISABILITY SYNDROME

Low match NARCOLEPSY TYPE 1


Narcolepsy with cataplexy is a sleep disorder characterized by excessive day-time sleepiness associated with uncontrollable sleep urges and cataplexy (loss of muscle tone often triggered by pleasant emotions).

NARCOLEPSY TYPE 1 Is also known as g√Člineau disease|narcoleptic syndrome 1|narcolepsy-cataplexy

Related symptoms:

  • Neoplasm
  • Obesity
  • Hyperactivity
  • Abnormality of the eye
  • Paralysis


SOURCES: ORPHANET OMIM MENDELIAN

More info about NARCOLEPSY TYPE 1

Low match KEARNS-SAYRE SYNDROME


Kearns-Sayre syndrome (KSS) is a mitochondrial disease characterized by progressive external ophthalmoplegia (PEO), pigmentary retinitis and an onset before the age of 20 years. Common additional features include deafness, cerebellar ataxia and heart block.

KEARNS-SAYRE SYNDROME Is also known as ophthalmoplegia, pigmentary degeneration of retina, and cardiomyopathy|cpeo with myopathy|oculocraniosomatic syndrome|ophthalmoplegia, progressive external, with ragged-red fibers|cpeo with ragged-red fibers|chronic progressive external ophthalmoplegia wi

Related symptoms:

  • Seizures
  • Short stature
  • Generalized hypotonia
  • Hearing impairment
  • Microcephaly


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about KEARNS-SAYRE SYNDROME

Low match ANDERSEN CARDIODYSRHYTHMIC PERIODIC PARALYSIS


Andersen-Tawil syndrome is an autosomal dominant multisystem channelopathy characterized by periodic paralysis, ventricular arrhythmias, and distinctive dysmorphic facial or skeletal features. Hypoplastic kidney and valvular heart disease have also been reported. The disorder shows marked intrafamilial variability and incomplete penetrance (summary by Davies et al., 2005).

ANDERSEN CARDIODYSRHYTHMIC PERIODIC PARALYSIS Is also known as ats|andersen syndrome|long qt syndrome 7|periodic paralysis, potassium-sensitive cardiodysrhythmic type|lqt7|andersen-tawil syndrome

Related symptoms:

  • Seizures
  • Short stature
  • Microcephaly
  • Scoliosis
  • Ataxia


SOURCES: OMIM MENDELIAN

More info about ANDERSEN CARDIODYSRHYTHMIC PERIODIC PARALYSIS

Low match GAUCHER DISEASE TYPE 1


Gaucher disease type 1 is the chronic non-neurological form of Gaucher disease (GD; see this term) characterized by organomegaly, bone involvement and cytopenia.

GAUCHER DISEASE TYPE 1 Is also known as gaucher disease, juvenile and adult, cerebral|gd iii|gaucher disease, chronic neuronopathic type|non-cerebral juvenile gaucher disease|gaucher disease, subacute neuronopathic type

Related symptoms:

  • Seizures
  • Global developmental delay
  • Short stature
  • Scoliosis
  • Ataxia


SOURCES: ORPHANET OMIM MENDELIAN

More info about GAUCHER DISEASE TYPE 1

Low match CLASSIC PROGRESSIVE SUPRANUCLEAR PALSY SYNDROME


Classical progressive supranuclear palsy, also known as Richardson's syndrome, is the most common clinical variant of progressive supranuclear palsy (PSP; see this term), a rare late-onset neurodegenerative disease characterized by postural instability, progressive rigidity, supranuclear gaze palsy and mild dementia.

CLASSIC PROGRESSIVE SUPRANUCLEAR PALSY SYNDROME Is also known as psp|steele-richardson-olszewski disease|steele-richardson-olszewski syndrome|classic psp syndrome|richardson syndrome

Related symptoms:

  • Seizures
  • Cognitive impairment
  • Hyperreflexia
  • Dysarthria
  • Tremor


SOURCES: OMIM ORPHANET MENDELIAN

More info about CLASSIC PROGRESSIVE SUPRANUCLEAR PALSY SYNDROME

Low match GAUCHER DISEASE TYPE 3


Gaucher disease type 3 is the subacute neurological form of Gaucher disease (GD; see this term) characterized by progressive encephalopathy and associated with the systemic manifestations (organomegaly, bone involvement, cytopenia) of GD type 1 (see this term).

GAUCHER DISEASE TYPE 3 Is also known as chronic neuronopathic gaucher disease|cerebral juvenile and adult form of gaucher disease|gaucher disease, subacute neuronopathic type

Related symptoms:

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


SOURCES: ORPHANET MENDELIAN

More info about GAUCHER DISEASE TYPE 3

Top 5 symptoms//phenotypes associated to Ataxia and Syncope

Symptoms // Phenotype % cases
Seizures Common - Between 50% and 80% cases
Depressivity Common - Between 50% and 80% cases
Gait ataxia Uncommon - Between 30% and 50% cases
Rigidity Uncommon - Between 30% and 50% cases
Dementia Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Parkinsonism Dysarthria Delayed skeletal maturation Dysphagia Abnormal rapid eye movement sleep Short stature Axial dystonia Congestive heart failure Cognitive impairment Arrhythmia Myoclonus Abnormal pyramidal sign Stridor Frequent falls Bradykinesia Progressive cerebellar ataxia Postural tremor Postural instability Supranuclear gaze palsy Tremor Dyspnea Neurodegeneration Gliosis Microcephaly Global developmental delay Kyphosis Paralysis Fatigue Decreased body weight Hyperreflexia Scoliosis Orthostatic hypotension due to autonomic dysfunction Female anorgasmia Constipation Resting tremor Raynaud phenomenon Abnormal autonomic nervous system physiology Orofacial dyskinesia Gaze-evoked nystagmus Central sleep apnea Autonomic erectile dysfunction Apathy Orthostatic syncope Autonomic bladder dysfunction Abnormal brain FDG positron emission tomography Camptocormia

Rare Symptoms - Less than 30% cases


Decreased beta-glucocerebrosidase protein and activity Hematological neoplasm Cardiac valve calcification Erlenmeyer flask deformity of the femurs Horizontal supranuclear gaze palsy Gait disturbance Dystonia Epistaxis Progressive neurologic deterioration Generalized myoclonic seizures Cirrhosis Hematuria Ascites Abdominal distention Gait imbalance Abnormal bleeding Abnormality of the eye Orthopnea Cyanosis Apraxia Slurred speech Mental deterioration Pancytopenia Pulmonary arterial hypertension Nystagmus Ptosis Muscle weakness Increased susceptibility to fractures Petechiae Pericardial effusion Memory impairment Interstitial pulmonary abnormality Clubbing Exertional dyspnea Aseptic necrosis Abnormality of the thorax Portal hypertension Ophthalmoplegia Hepatocellular carcinoma Cholelithiasis Ventricular arrhythmia Vertebral compression fractures Bone pain Multiple myeloma Abnormal myocardium morphology Avascular necrosis of the capital femoral epiphysis Abnormality of the spleen Generalized osteosclerosis Leukopenia Oculomotor apraxia Encephalopathy Osteolysis Spontaneous hematomas Menorrhagia Increased bone mineral density Pain 2-3 toe syndactyly Lymphadenopathy Abnormality of eye movement High palate Myopia Hepatomegaly Behavioral abnormality Abnormality of the skeletal system Anemia Brachydactyly Motor delay Delayed puberty Failure to thrive Micrognathia Splenomegaly Intellectual disability Growth delay Skeletal muscle atrophy Neuronal loss in central nervous system Abnormal heart valve morphology Limb ataxia Small hand Pallor Babinski sign Diarrhea Strabismus Clinodactyly Anxiety Short phalanx of finger Corneal opacity Proteinuria Thrombocytopenia Facial asymmetry Hepatosplenomegaly Osteopenia Broad forehead Increased antibody level in blood Abdominal pain Aggressive behavior Thin upper lip vermilion Osteoporosis Hyperactivity Abnormal saccadic eye movements Recurrent respiratory infections Long nose Scaphocephaly Hyperthyroidism Slender long bone Bruising susceptibility Agenesis of permanent teeth Neurological speech impairment Abnormality of skin pigmentation Persistence of primary teeth Prolonged QT interval Hyperkalemia High pitched voice Leukocytosis Periodic paralysis Clinodactyly of the 5th toe Delayed eruption of permanent teeth Prominent frontal sinuses Abnormality of the cardiovascular system Meningitis Hepatic fibrosis Spastic paraparesis Anorexia EEG abnormality Prominent U wave Arthritis Toe clinodactyly Bidirectional ventricular ectopy Osteoarthritis Reduced bone mineral density Periodic hyperkalemic paralysis Short mandibular rami Periodic hypokalemic paresis Spasticity Antegonial notching of mandible Fractures of the long bones Osteomyelitis Hydrocephalus Intention tremor Malabsorption Generalized tonic-clonic seizures Difficulty walking Hypertonia Vomiting Edema Frontolimbic dementia Lymphopenia Granulovacuolar degeneration Neuronal loss in basal ganglia Eyelid apraxia Frontal release signs Retrocollis Vertical supranuclear gaze palsy Parkinsonism with favorable response to dopaminergic medication Tics Hydrops fetalis Hypoalbuminemia Aspiration pneumonia Restrictive deficit on pulmonary function testing Abnormality of the acoustic reflex Abnormality of ion homeostasis Mitral valve calcification Aortic valve calcification Abnormal thrombosis Astrocytosis Protein-losing enteropathy Hypercoagulability Pulmonary fibrosis Slow saccadic eye movements Thoracic kyphosis Bulbar palsy Abnormality of the sternum Lower limb hyperreflexia Abnormal retinal morphology Restrictive ventilatory defect Opisthotonus Central apnea Frontotemporal dementia Abnormality of coagulation Preauricular pit Puberty and gonadal disorders Biliary tract obstruction Vascular calcification Abnormal platelet function Arthralgia of the hip Flank pain Abnormality of bone marrow cell morphology Hypersplenism Pneumonia Esodeviation Periorbital edema Edema of the lower limbs Increased serum ferritin Bipolar affective disorder Gingival bleeding Protuberant abdomen Pathologic fracture Cerebral atrophy Respiratory failure Hypoventilation Mutism Limb dystonia Neurofibrillary tangles Aphasia Blurred vision Alzheimer disease Akinesia Oral-pharyngeal dysphagia Eosinophilia Aspiration Photophobia Diplopia Clumsiness Brain atrophy Falls Cough Stroke Irritability Apnea Loss of consciousness Inability to walk Myotonia Sleep disturbance Cataplexy Excessive daytime sleepiness Hypersomnia Brain neoplasm Drowsiness Atonic seizures Abnormality of vision Hallucinations Obesity Transient global amnesia Neoplasm Aplasia of the 1st metacarpal Hyperacusis Obsessive-compulsive trait Mild global developmental delay Abnormality of finger Ventricular extrasystoles Absent radius Obsessive-compulsive behavior Narcolepsy CNS infection Low anterior hairline Blindness Reduced visual acuity Diabetes mellitus Hypogonadism Severe short stature Rod-cone dystrophy Cerebellar hypoplasia Elevated serum creatine phosphokinase Hyporeflexia Myopathy Cardiomyopathy Hypnagogic hallucinations Optic atrophy Peripheral neuropathy Muscular hypotonia Sensorineural hearing impairment Hearing impairment Generalized hypotonia Hypnopompic hallucinations Sleep paralysis Paroxysmal drowsiness Abnormality of the hand Dental crowding Acidosis Hypohidrosis Cogwheel rigidity Olivopontocerebellar atrophy Dysuria Orthostatic hypotension Bowel incontinence Urinary urgency Impotence Anhidrosis Mask-like facies Abnormality of extrapyramidal motor function Nocturia Peripheral demyelination Hypotension Urinary incontinence Broad-based gait Dysphonia Hyperhidrosis Downbeat nystagmus Cerebellar atrophy Neuromuscular dysphagia Iris atrophy Civatte bodies Hypodontia High forehead Tapered finger Thick vermilion border Short distal phalanx of finger Thick eyebrow Poor speech Synophrys Attention deficit hyperactivity disorder Abnormal cardiac septum morphology Pes planus Macrotia Abnormality of circulating catecholamine level Upslanted palpebral fissure Pectus excavatum Recurrent infections Long philtrum Short nose Downslanted palpebral fissures Epicanthus Delayed speech and language development Feeding difficulties Hypothyroidism Retinopathy Hypokalemia Wide nasal bridge Toe syndactyly Blepharophimosis Joint laxity Clinodactyly of the 5th finger Syndactyly Malar flattening Abnormality of the dentition Respiratory distress Fever Low-set ears Tachycardia Cleft palate Abnormal facial shape Hypertelorism Low CSF 5-methyltetrahydrofolate Progressive intervertebral space narrowing Second degree atrioventricular block Third degree atrioventricular block Adrenocorticotropin deficient adrenal insufficiency Folate deficiency Pulmonic stenosis Bulbous nose First degree atrioventricular block Palpitations Short metatarsal Growth abnormality Oligodontia Bicuspid aortic valve Ventricular tachycardia Scapular winging Short chin Cardiac arrest Hypoplasia of dental enamel Tetraparesis Short palm Short palpebral fissure Renal hypoplasia Coarctation of aorta Specific learning disability Short metacarpal Triangular face Hypoplasia of the maxilla Delayed eruption of teeth Short foot Renal Fanconi syndrome Sideroblastic anemia Nyctalopia Cardiomegaly Atrioventricular block Ragged-red muscle fibers Reduced tendon reflexes Leukoencephalopathy External ophthalmoplegia EMG abnormality Abnormality of retinal pigmentation Left ventricular hypertrophy Ventricular hypertrophy Cerebral calcification Nasal speech Pigmentary retinopathy Growth hormone deficiency Muscle cramps Sensory neuropathy Lactic acidosis Vertigo Limb muscle weakness Dilated cardiomyopathy Muscular dystrophy Incoordination Bilateral ptosis Muscle fiber atrophy Increased CSF protein Titubation Abnormality of the mitochondrion Anterior hypopituitarism Stroke-like episode Severe lactic acidosis Hypomagnesemia Hyperaldosteronism Heart block Mitochondrial myopathy Hypoparathyroidism Abnormality of mitochondrial metabolism Progressive external ophthalmoplegia Exocrine pancreatic insufficiency Primary adrenal insufficiency Renal tubular acidosis Basal ganglia calcification Bundle branch block Adrenal insufficiency Hemiplegia/hemiparesis Ophthalmoparesis Sleep myoclonus



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