Ataxia, and Tachycardia

Diseases related with Ataxia and Tachycardia

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

Top matches:

Familial dilated cardiomyopathy with conduction defect due to LMNA mutation is a rare familial dilated cardiomyopathy characterized by left ventricular enlargement and/or reduced systolic function preceded or accompanied by significant conduction system disease and/or arrhythmias including bradyarrhythmias, supraventricular or ventricular arrhythmias. Disease onset is usually in early to mid-adulthood. Sudden cardiac death may occur and may be the presenting symptom. In some cases, it is associated with skeletal myopathy and elevated serum creatine kinase.

FAMILIAL DILATED CARDIOMYOPATHY WITH CONDUCTION DEFECT DUE TO LMNA MUTATION Is also known as cardiomyopathy, familial idiopathic|cardiomyopathy, idiopathic dilated|cardiomyopathy, dilated, with conduction defect 1|cdcd1|cardiomyopathy, congestive

Related symptoms:

  • Ataxia
  • Pain
  • Fatigue
  • Ventriculomegaly
  • Cardiomyopathy


SOURCES: ORPHANET OMIM MENDELIAN

More info about FAMILIAL DILATED CARDIOMYOPATHY WITH CONDUCTION DEFECT DUE TO LMNA MUTATION

PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE 5; PEOB5 Is also known as progressive external ophthalmoplegia, autosomal recessive 5

Related symptoms:

  • Hearing impairment
  • Ataxia
  • Sensorineural hearing impairment
  • Muscle weakness
  • Ptosis


SOURCES: OMIM MENDELIAN

More info about PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE 5; PEOB5

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

Other less relevant matches:

Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency is a rare mitochondrial oxidative phosphorylation disorder with complex I and IV deficiency characterized by lactic acidosis, hypotonia, hypertrophic cardiomyopathy and global developmental delay. Other clinical features include feeding difficulties, failure to thrive, seizures, optic atrophy and ataxia.

MITOCHONDRIAL HYPERTROPHIC CARDIOMYOPATHY WITH LACTIC ACIDOSIS DUE TO MTO1 DEFICIENCY Is also known as cardiomyopathy, infantile hypertrophic mitochondrial, and lactic acidosis|coxpd10|combined oxidative phosphorylation defect type 10

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about MITOCHONDRIAL HYPERTROPHIC CARDIOMYOPATHY WITH LACTIC ACIDOSIS DUE TO MTO1 DEFICIENCY

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

Gitelman syndrome is an autosomal recessive renal tubular salt-wasting disorder characterized by hypokalemic metabolic alkalosis with hypomagnesemia and hypocalciuria. It is the most common renal tubular disorder among Caucasians (prevalence of 1 in 40,000). Most patients have onset of symptoms as adults, but some can present in childhood. Clinical features include transient periods of muscle weakness and tetany, abdominal pains, and chondrocalcinosis (summary by Glaudemans et al., 2012). Gitelman syndrome is sometimes referred to as a mild variant of classic Bartter syndrome (OMIM ).For a discussion of genetic heterogeneity of Bartter syndrome, see {607364}.

GITELMAN SYNDROME; GTLMNS Is also known as hypomagnesemia-hypokalemia, primary renotubular, with hypocalciuria|potassium and magnesium depletion

Related symptoms:

  • Seizures
  • Short stature
  • Generalized hypotonia
  • Ataxia
  • Growth delay


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about GITELMAN SYNDROME; GTLMNS

Recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome is a rare, genetic, neurodegenerative disease characterized by episodic metabolic encephalomyopathic crises (of variable frequency and severity which are frequently precipitated by an acute illness) which manifest with profound muscle weakness, ataxia, seizures, cardiac arrhythmias, rhabdomyolysis with myoglobinuria, elevated plasma creatine kinase, hypoglycemia, lactic acidosis, increased acylcarnitines and a disorientated or comatose state. Global developmental delay, intellectual disability and cortical, pyramidal and cerebellar signs develop with subsequent progressive neurodegeneration causing loss of expressive language and varying degrees of cerebral atrophy.

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Hearing impairment


SOURCES: ORPHANET OMIM MENDELIAN

More info about RECURRENT METABOLIC ENCEPHALOMYOPATHIC CRISES-RHABDOMYOLYSIS-CARDIAC ARRHYTHMIA-INTELLECTUAL DISABILITY SYNDROME

Hereditary sensory and autonomic neuropathy, type 3 (HSAN3) is an inherited disorder characterized by sensory dysfunction and severe impairment of the autonomic nervous system activity, resulting in multisystem dysfunction.

FAMILIAL DYSAUTONOMIA Is also known as dysautonomia, familial|dys|hereditary sensory and autonomic neuropathy type iii|hereditary sensory and autonomic neuropathy type 3|hsan3|hsan iii|fd|riley-day syndrome

Related symptoms:

  • Seizures
  • Generalized hypotonia
  • Scoliosis
  • Ataxia
  • Growth delay


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about FAMILIAL DYSAUTONOMIA

Thiamine-responsive megaloblastic anemia (TRMA) is characterized by a triad of megaloblastic anemia, non-type I diabetes mellitus, and sensorineural deafness.

THIAMINE-RESPONSIVE MEGALOBLASTIC ANEMIA SYNDROME Is also known as thmd1|trma|thiamine-responsive megaloblastic anemia with diabetes mellitus and sensorineural deafness|rogers syndrome|thiamine-responsive myelodysplasia|thiamine metabolism dysfunction syndrome 1 (megaloblastic anemia, diabetes mellitus, and deafness type

Related symptoms:

  • Seizures
  • Global developmental delay
  • Short stature
  • Hearing impairment
  • Microcephaly


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about THIAMINE-RESPONSIVE MEGALOBLASTIC ANEMIA SYNDROME

Triple A syndrome is a very rare multisystem disease characterized by adrenal insufficiency with isolated glucocorticoid deficiency, achalasia, alacrima, autonomic dysfunction and neurodegeneration.

TRIPLE A SYNDROME Is also known as glucocorticoid deficiency and achalasia|quaternary a syndrome|addisonian-achalasia syndrome|achalasia-addisonianism-alacrima syndrome|alacrima-achalasia-adrenal insufficiency neurologic disorder|2a syndrome|3a syndrome|adrenal insufficiency-achalasia-alac

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about TRIPLE A SYNDROME

Top 5 symptoms//phenotypes associated to Ataxia and Tachycardia

Symptoms // Phenotype % cases
Seizures Common - Between 50% and 80% cases
Arrhythmia Common - Between 50% and 80% cases
Fatigue Uncommon - Between 30% and 50% cases
Global developmental delay Uncommon - Between 30% and 50% cases
Optic atrophy Uncommon - Between 30% and 50% cases

Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases

Muscle weakness Hearing impairment Encephalopathy Generalized hypotonia Intellectual disability Hypoglycemia Dysarthria Sensorineural hearing impairment Hypotension Cardiomyopathy Cardiac arrest Metabolic acidosis Acidosis Vomiting Spasticity Congestive heart failure Growth delay Muscular hypotonia Cognitive impairment Hypertension Dysphagia Microcephaly Peripheral neuropathy Pain Constipation Hyperhidrosis Confusion Short stature Abnormal autonomic nervous system physiology Diarrhea Neurodegeneration

Rare Symptoms - Less than 30% cases

Alacrima Nausea and vomiting Paresthesia Gastroesophageal reflux Polyneuropathy Nausea Aminoaciduria Orthostatic hypotension Hyperventilation Failure to thrive Agitation Hyperkinesis Feeding difficulties Oral-pharyngeal dysphagia Dystonia Dementia Hypertrophic cardiomyopathy Lactic acidosis Increased serum lactate Ketonuria Gait disturbance Nystagmus Nephropathy Anxiety Depressivity Episodic fever Rhabdomyolysis Gait ataxia Weight loss Fever Ventricular tachycardia Coma Diplopia Ventricular fibrillation Left ventricular failure Headache Cardiomegaly Sinus bradycardia Dilatation Ventricular arrhythmia Bradycardia Cerebellar atrophy Sensory neuropathy Malignant hyperthermia Aseptic necrosis Elevated serum creatinine Heterochromia iridis Corneal erosion Hypoxemia Impaired pain sensation Acrocyanosis Abnormal pupil morphology Recurrent corneal erosions Decreased taste sensation Decreased sensitivity to hypoxemia Recurrent infections due to aspiration Episodic hypertension Episodic hyperhidrosis Abnormality of the peritoneum Neuropathic arthropathy Decreased corneal reflex Abnormal renal physiology Corneal ulceration Decerebrate rigidity Increased blood urea nitrogen Myopathy Abnormality of the pleura Decreased number of large peripheral myelinated nerve fibers Glomerulopathy Emotional lability Anhidrosis Hyporeflexia Hyperactive deep tendon reflexes Myoglobinuria Poor coordination Torsade de pointes Prolonged QTc interval Acute rhabdomyolysis Premature pubarche Elevated plasma acylcarnitine levels Premature thelarche Scoliosis Myopia Behavioral abnormality Renal insufficiency Areflexia Recurrent respiratory infections Epiphora Hypohidrosis Anemia Hyponatremia Glomerulosclerosis Incoordination Osteolysis EMG abnormality Peripheral demyelination Dilated cardiomyopathy Sensory impairment Recurrent fractures Unsteady gait Corneal opacity Feeding difficulties in infancy Abnormality of the kidney Cryptorchidism Visual loss Ventricular septal defect Spastic tetraparesis Hyperreflexia Skeletal muscle atrophy Respiratory insufficiency Babinski sign Pes cavus Hyperkeratosis Abnormality of the nervous system Developmental regression Peripheral axonal neuropathy Iris coloboma Palmoplantar keratoderma Parkinsonism Tetraparesis Hyperpigmentation of the skin Palmoplantar hyperkeratosis Thiamine-responsive megaloblastic anemia Adrenal insufficiency Ectopic kidney Generalized hyperpigmentation Primary adrenal insufficiency Abnormality of visual evoked potentials Motor axonal neuropathy Achalasia Decreased circulating cortisol level Anterior hypopituitarism Decreased circulating aldosterone level Plantar hyperkeratosis Anisocoria Abnormality of the calf musculature Abnormality of the hypothenar eminence Visual impairment Paroxysmal atrial tachycardia Atrial septal defect Amenorrhea Thrombocytopenia Myopathic facies Abnormal heart morphology Diabetes mellitus Pallor Abnormal cardiac septum morphology Stroke Lethargy Retinal degeneration Retinal dystrophy Ventriculomegaly Neutropenia Aciduria Abnormality of the skin Bilateral sensorineural hearing impairment Progressive peripheral neuropathy Pancytopenia Anorexia Situs inversus totalis Hoarse voice Cone/cone-rod dystrophy Polycystic ovaries Myelodysplasia Hyperglycemia Secondary amenorrhea Macrocytic anemia Megaloblastic anemia Abdominal situs inversus Abnormality of the basal ganglia Sideroblastic anemia Spastic diplegia Abnormal cerebellum morphology Sudden cardiac death Mental deterioration Hyperalaninemia Decreased activity of mitochondrial respiratory chain Dysmetria Ophthalmoplegia Tremor Ptosis Paroxysmal ventricular tachycardia Premature atrial contractions Myoclonus Reduced systolic function Skeletal myopathy Left ventricular noncompaction Apnea Generalized tonic-clonic seizures Wolff-Parkinson-White syndrome Inability to walk Atrial flutter Gliosis Memory impairment Neuronal loss in central nervous system Progressive neurologic deterioration Hallucinations Myocarditis Abnormal EKG Slurred speech Apathy Stridor Thromboembolism Impotence Severe lactic acidosis Aspiration pneumonia Insomnia Progressive ptosis Stereotypy Jaundice Congenital sensorineural hearing impairment Abnormality of the musculature Renal tubular acidosis Progressive encephalopathy Renal tubular dysfunction Abnormality of the respiratory system Stomatitis Breathing dysregulation Nonprogressive encephalopathy Abnormality of tryptophan metabolism Hypertonia Upper limb dysmetria Pleural effusion Nasal regurgitation Limb dysmetria Progressive external ophthalmoplegia Motor delay Hepatomegaly Neck muscle weakness Ragged-red muscle fibers External ophthalmoplegia Exercise intolerance Small for gestational age Poor speech Ascites Broad-based gait Infantile muscular hypotonia Aphasia Amyloidosis Hyperammonemia Hypokalemic metabolic alkalosis Hypomagnesemia Renal salt wasting Alkalosis Chondrocalcinosis Enuresis Tetany Metabolic alkalosis Increased circulating renin level Periodic paralysis Pollakisuria Hypovolemia Hypocalciuria Hypokalemic alkalosis Nocturia Atrial fibrillation Renal potassium wasting Hypochloremia Renal magnesium wasting Salt craving Chest pain Cerebral atrophy Absent speech Elevated serum creatine phosphokinase Hypothyroidism Elevated hepatic transaminase Dry skin Spastic tetraplegia Clonus Drooling Ventricular hypertrophy Prolonged QT interval Urinary bladder sphincter dysfunction Paralysis Hypothermia Bulbar signs Dysuria Central apnea Astrocytosis Urinary retention Hypersomnia Delirium Snoring Abnormality of the thyroid gland Pericardial effusion Abdominal pain Arthralgia Erythema Bundle branch block Blurred vision Delayed puberty Increased variability in muscle fiber diameter Vertigo Atrioventricular block Postural instability Muscle cramps Generalized muscle weakness Dehydration Palpitations Inflammatory abnormality of the skin Hypokalemia Hypercalciuria Polydipsia Polyuria Adrenocorticotropin receptor defect


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