Ataxia, and Bradycardia

Diseases related with Ataxia and Bradycardia

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


Top matches:

Medium match FAMILIAL DILATED CARDIOMYOPATHY WITH CONDUCTION DEFECT DUE TO LMNA MUTATION


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

Medium match MITOCHONDRIAL HYPERTROPHIC CARDIOMYOPATHY WITH LACTIC ACIDOSIS DUE TO MTO1 DEFICIENCY


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

Medium match ALTERNATING HEMIPLEGIA OF CHILDHOOD


Alternating hemiplegia of childhood (AHC) is a rare neurodevelopmental disorder characterized by recurrent episodes of hemiplegia and paroxysmal disturbances associated with persistent developmental delay and cognitive impairment.

ALTERNATING HEMIPLEGIA OF CHILDHOOD Is also known as ahc

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about ALTERNATING HEMIPLEGIA OF CHILDHOOD

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Other less relevant matches:

Medium match CEROID LIPOFUSCINOSIS, NEURONAL, 10; CLN10


The neuronal ceroid lipofuscinoses (NCL; CLN) are a clinically and genetically heterogeneous group of neurodegenerative disorders characterized by the intracellular accumulation of autofluorescent lipopigment storage material in different patterns ultrastructurally. The clinical course includes progressive dementia, seizures, and progressive visual failure (Mole et al., 2005).For a discussion of genetic heterogeneity of neuronal ceroid lipofuscinosis, see CLN1 (OMIM ).

CEROID LIPOFUSCINOSIS, NEURONAL, 10; CLN10 Is also known as neuronal ceroid lipofuscinosis due to cathepsin d deficiency|ceroid lipofuscinosis, neuronal, cathepsin d-deficient

Related symptoms:

  • Seizures
  • Microcephaly
  • Ataxia
  • Spasticity
  • Low-set ears


SOURCES: ORPHANET OMIM MENDELIAN

More info about CEROID LIPOFUSCINOSIS, NEURONAL, 10; CLN10

Medium match INFANTILE CEREBELLAR-RETINAL DEGENERATION


Infantile cerebellar-retinal degeneration is a rare, neurodegenerative disorder characterized by an early onset of truncal hypotonia, variable forms of seizures, athetosis, severe global developmental delay, intellectual disability and various ophthalmologic abnormalities, including strabismus, nystagmus, optic atrophy and retinal degeneration.

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about INFANTILE CEREBELLAR-RETINAL DEGENERATION

Medium match MENTAL RETARDATION, AUTOSOMAL DOMINANT 56; MRD56


Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about MENTAL RETARDATION, AUTOSOMAL DOMINANT 56; MRD56

Medium match PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL DOMINANT 3; PEOA3


Progressive external ophthalmoplegia is characterized by multiple mitochondrial DNA deletions in skeletal muscle. The most common clinical features include adult onset of weakness of the external eye muscles and exercise intolerance. Patients with C10ORF2-linked adPEO may have other clinical features including proximal muscle weakness, ataxia, peripheral neuropathy, cardiomyopathy, cataracts, depression, and endocrine abnormalities (summary by Fratter et al., 2010).For a general phenotypic description and a discussion of genetic heterogeneity of autosomal dominant progressive external ophthalmoplegia, see PEOA1 (OMIM ).PEO caused by mutations in the POLG gene (OMIM ) are associated with more complicated phenotypes than those forms caused by mutations in the SLC25A4 (OMIM ) or C10ORF2 genes (Lamantea et al., 2002).

PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL DOMINANT 3; PEOA3 Is also known as progressive external ophthalmoplegia, autosomal dominant 3

Related symptoms:

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


SOURCES: MESH OMIM MENDELIAN

More info about PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL DOMINANT 3; PEOA3

Low match BASAL CELL NEVUS SYNDROME; BCNS


BASAL CELL NEVUS SYNDROME; BCNS Is also known as nevoid basal cell carcinoma syndrome|gorlin-goltz syndrome|gorlin syndrome|nbccs|multiple basal cell nevi, odontogenic keratocysts, and skeletal anomalies

Related symptoms:

  • Intellectual disability
  • Hearing impairment
  • Microcephaly
  • Scoliosis
  • Ataxia


SOURCES: OMIM MENDELIAN

More info about BASAL CELL NEVUS SYNDROME; BCNS

Low match SYSTEMIC PRIMARY CARNITINE DEFICIENCY


Systemic primary carnitine deficiency (SPCD) is a potentially lethal disorder of fatty acid oxidation characterized classically by early childhood onset cardiomyopathy often with weakness and hypotonia, failure to thrive and recurrent hypoglycemic hypoketotic seizures and/or coma.

SYSTEMIC PRIMARY CARNITINE DEFICIENCY Is also known as cud|carnitine uptake deficiency|carnitine transporter defect|systemic carnitine deficiency|deficiency of plasma-membrane carnitine transporter|scd|carnitine deficiency, primary|carnitine deficiency, systemic, due to defect in renal reabsorption of carniti

Related symptoms:

  • Seizures
  • Generalized hypotonia
  • Failure to thrive
  • Muscle weakness
  • Muscular hypotonia


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about SYSTEMIC PRIMARY CARNITINE DEFICIENCY

Low match AUTOSOMAL DOMINANT EMERY-DREIFUSS MUSCULAR DYSTROPHY


EDMD is characterized by myopathic changes in certain skeletal muscles and early contractures at the neck, elbows, and Achilles tendons, as well as cardiac conduction defects. 'Classic' Emery-Dreifuss muscular dystrophy (EDMD1 ) is an X-linked disorder caused by mutation in the emerin gene (EMD ) on Xq28 (Emery, 1989).For a discussion of genetic heterogeneity of EDMD, see {310300}.

AUTOSOMAL DOMINANT EMERY-DREIFUSS MUSCULAR DYSTROPHY Is also known as scapuloilioperoneal atrophy with cardiopathy|emd2|muscular dystrophy, limb-girdle, type 1b, formerly|emery-dreifuss muscular dystrophy, autosomal dominant|edmd2|cardiomyopathy, dilated, with quadriceps myopathy|muscular dystrophy, proximal, type 1b, forme

Related symptoms:

  • Intellectual disability
  • Generalized hypotonia
  • Scoliosis
  • Muscle weakness
  • Muscular hypotonia


SOURCES: OMIM ORPHANET MENDELIAN

More info about AUTOSOMAL DOMINANT EMERY-DREIFUSS MUSCULAR DYSTROPHY

Top 5 symptoms//phenotypes associated to Ataxia and Bradycardia

Symptoms // Phenotype % cases
Seizures Common - Between 50% and 80% cases
Cardiomyopathy Common - Between 50% and 80% cases
Intellectual disability Common - Between 50% and 80% cases
Myopathy Uncommon - Between 30% and 50% cases
Arrhythmia Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Generalized hypotonia Global developmental delay Pain Microcephaly Hearing impairment Feeding difficulties Spasticity Muscle weakness Congestive heart failure Fatigue Skeletal muscle atrophy Dilated cardiomyopathy Muscular hypotonia Cognitive impairment Respiratory insufficiency Wide nasal bridge Rigidity Peripheral neuropathy Sensorineural hearing impairment Cardiomegaly Failure to thrive Optic atrophy Apnea Encephalopathy Elevated serum creatine phosphokinase Areflexia Status epilepticus Hypoglycemia Hypertrophic cardiomyopathy Ventricular hypertrophy Visual loss

Rare Symptoms - Less than 30% cases


Gliosis Dementia Scoliosis Cerebral atrophy Cerebellar atrophy Intellectual disability, severe Generalized-onset seizure Tremor Sprengel anomaly Low-set ears Impulsivity Muscle stiffness Exotropia Hemiparesis Migraine Parkinsonism Nevus Strabismus Postnatal microcephaly Hydrocephalus Progressive muscle weakness Left ventricular hypertrophy Lower limb muscle weakness Limb muscle weakness Proximal muscle weakness Gait disturbance Dysarthria Ptosis Cataract Clumsiness Hypothyroidism High palate Sensory axonal neuropathy Progressive hearing impairment Severe global developmental delay Cerebral cortical atrophy Pectus excavatum Abdominal pain Hyporeflexia Generalized tonic-clonic seizures Facial palsy Hypoplasia of the corpus callosum Limb-girdle muscle weakness Central apnea Abnormality of eye movement EMG: myopathic abnormalities Acidosis Sudden cardiac death Dystonia Hepatomegaly Motor delay Ventricular arrhythmia Atrial fibrillation Metabolic acidosis Atrioventricular block Increased serum lactate Ventricular fibrillation Ketonuria Nystagmus Respiratory distress Skeletal myopathy Dysphagia Abnormality of the thyroid gland Dyspnea Mental deterioration Abnormality of the eye Pes cavus Sinus bradycardia Ovarian carcinoma Parietal bossing Feeding difficulties in infancy Vertebral wedging Fibroma Abnormality of the sense of smell Severe hydrocephalus Hamartomatous polyposis Cervical ribs Irritability Respiratory tract infection Supernumerary ribs Multiple impacted teeth Elevated hepatic transaminase Cardiac fibroma Bifid ribs Bridged sella turcica Plantar pits Ovarian fibroma Odontogenic keratocysts of the jaw Irregular ossification of hand bones Cardiac rhabdomyoma Hamartomatous stomach polyps Curved fingers Short distal phalanx of the thumb Fever Ectopic calcification Vomiting Histiocytoma Calcification of falx cerebri Orbital cyst Palmar pits Recurrent respiratory infections Paralysis Neoplasm of the endocrine system Medulloblastoma Short ribs Nephritis Glomerulonephritis Relative macrocephaly Neoplasm of the skin Spina bifida occulta Hemivertebrae Hypogonadotrophic hypogonadism Spina bifida Inflammation of the large intestine Hyperpigmentation of the skin Abnormality of the ribs Cerebral calcification Hypotension Palmoplantar keratoderma Postaxial polydactyly Iris coloboma Oral cleft Melanocytic nevus Disproportionate tall stature Astrocytoma Fragile nails Brain neoplasm Ulcerative colitis Broad face Confusion Abnormality of the neck Short 4th metacarpal Skin tags Down-sloping shoulders Narrow nose Milia Ventriculomegaly Thoracic scoliosis Abnormality of the sternum Colitis Vertebral fusion Agenesis of permanent teeth Long fingers Basal cell carcinoma Lethargy Excessive daytime somnolence Hepatic steatosis Rimmed vacuoles Shoulder girdle muscle weakness Distal lower limb amyotrophy Proximal amyotrophy Vocal cord paralysis Progressive proximal muscle weakness Heart block Ankle contracture Spinal rigidity Distal lower limb muscle weakness Difficulty climbing stairs Mildly elevated creatine phosphokinase Calf muscle hypertrophy Toe walking Myotonia Congenital muscular dystrophy Spinal muscular atrophy Limb-girdle muscular dystrophy Achilles tendon contracture Proximal muscle weakness in lower limbs Back pain Peroneal muscle weakness Restricted neck movement due to contractures Decreased cervical spine flexion due to contractures of posterior cervical muscles Proximal spinal muscular atrophy Type 1 muscle fiber atrophy Proximal upper limb amyotrophy Scapuloperoneal amyotrophy Ventricular escape rhythm Left anterior fascicular block Supraventricular arrhythmia Limb-girdle muscle atrophy Proximal muscle weakness in upper limbs Proximal lower limb amyotrophy Peroneal muscle atrophy Shoulder girdle muscle atrophy Atrial arrhythmia Increased LDL cholesterol concentration Abnormal atrioventricular conduction Lipodystrophy Reduced tendon reflexes Coma Endocardial fibroelastosis Irregular respiration Reduced muscle carnitine level Impaired gluconeogenesis Reye syndrome-like episodes Acute encephalopathy Generalized tonic-clonic seizures with focal onset Fasting hypoglycemia Decreased plasma carnitine Flexion contracture Hypoketotic hypoglycemia Recurrent hypoglycemia Arachnodactyly Neck muscle weakness Decreased muscle mass Easy fatigability Delayed gross motor development Hyperammonemia Decreased carnitine level in liver Kyphosis Respiratory insufficiency due to muscle weakness Syncope Scapular winging Knee flexion contracture Elbow flexion contracture Frequent falls Palpitations Hypertriglyceridemia Myocardial infarction Waddling gait Falls Midface retrusion Vertigo Ichthyosis Muscular dystrophy Joint stiffness Hyperlordosis Neonatal hypotonia Difficulty walking Obesity Cleft upper lip Coarse facial features Carious teeth Paroxysmal ventricular tachycardia Increased body weight Progressive microcephaly Retinal dystrophy Retinal degeneration Premature atrial contractions Pallor Muscular hypotonia of the trunk Agenesis of corpus callosum Athetosis Growth delay Edema Premature closure of fontanelles Increased neuronal autofluorescent lipopigment Intracellular accumulation of autofluorescent lipopigment storage material Loss of speech Retinal atrophy Reduced systolic function Hyperglycemia Intellectual disability, progressive Upslanted palpebral fissure Apraxia Delayed myelination Inability to walk Attention deficit hyperactivity disorder Protruding ear Thin upper lip vermilion Left ventricular noncompaction Absent speech Muscle fibrillation Long philtrum Left ventricular failure Anteverted nares Depressed nasal bridge Vegetative state Demyelinating peripheral neuropathy Poor eye contact Small for gestational age Poor speech Paraparesis Abnormal autonomic nervous system physiology Wheezing Anhidrosis Oral-pharyngeal dysphagia Immunodeficiency Stridor Hemiplegia Slurred speech Headache Abnormality of the mitochondrion Recurrent infections Involuntary movements Choreoathetosis Hyperhidrosis Esotropia Chorea Tetraplegia Facial paralysis Bronchospasm Sloping forehead Infantile muscular hypotonia Lactic acidosis Cyanosis Neuronal loss in central nervous system Tachycardia Peripheral axonal neuropathy Ascites Respiratory failure Rod-cone dystrophy Episodic quadriplegia Pleural effusion Abnormality of metabolism/homeostasis Aspiration pneumonia Wolff-Parkinson-White syndrome Severe lactic acidosis Hyperalaninemia Decreased activity of mitochondrial respiratory chain Episodic hemiplegia Open mouth Hyperbilirubinemia Hypotrichosis Cleft palate Abnormality of the skeletal system Frontal bossing Downslanted palpebral fissures Macrocephaly Brachydactyly Epicanthus Cryptorchidism Micrognathia Syndactyly Neoplasm Hypertelorism Subsarcolemmal accumulations of abnormally shaped mitochondria Multiple mitochondrial DNA deletions Cytochrome C oxidase-negative muscle fibers Sensory ataxia Mitochondrial myopathy Abnormality of the dentition Microphthalmia Bipolar affective disorder Carcinoma Papule Coloboma Sparse hair Dilatation Cleft lip Telecanthus Proteinuria EEG abnormality Chest pain Developmental regression Retrognathia Kyphoscoliosis Mandibular prognathia Proptosis Polydactyly Glaucoma Brachycephaly Progressive external ophthalmoplegia Insomnia Laryngomalacia Thromboembolism Pericardial effusion Ophthalmoplegia Myalgia Diabetes mellitus Hypogonadism Amyloidosis Depressivity Abnormal EKG Paresthesia Visual impairment Myocarditis Atrial flutter Short stature Ganglioneuroblastoma Pontocerebellar atrophy Inverted nipples Bundle branch block Sensory neuropathy Resting tremor Ragged-red muscle fibers Coronary artery atherosclerosis Ophthalmoparesis Apathy Premature ovarian insufficiency Bilateral ptosis Dysphonia Mutism External ophthalmoplegia Muscle cramps Exercise intolerance Diplopia Increased variability in muscle fiber diameter Bradykinesia Amenorrhea Memory impairment Brain atrophy Generalized muscle weakness Absent muscle fiber emerin



If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Ventricular septal defect and High, narrow palate, related diseases and genetic alterations Hyperreflexia and Intellectual disability, profound, related diseases and genetic alterations High palate and Craniosynostosis, related diseases and genetic alterations Ptosis and Lower limb muscle weakness, related diseases and genetic alterations Nystagmus and Ventriculomegaly, related diseases and genetic alterations Abnormal facial shape and Apraxia, related diseases and genetic alterations

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