Congestive heart failure, and Dysmetria

Diseases related with Congestive heart failure and Dysmetria

In the following list you will find some of the most common rare diseases related to Congestive heart failure and Dysmetria that can help you solving undiagnosed cases.

Top matches:

Medium match ATAXIA, SENSORY, 1, AUTOSOMAL DOMINANT; SNAX1

ATAXIA, SENSORY, 1, AUTOSOMAL DOMINANT; SNAX1 Is also known as adsa

Related symptoms:

Ataxia
Dysarthria
Gait disturbance
Dysphagia
Congestive heart failure

SOURCES: OMIM MENDELIAN

More info about ATAXIA, SENSORY, 1, AUTOSOMAL DOMINANT; SNAX1

Medium match SPINOCEREBELLAR ATAXIA TYPE 7

Spinocerebellar ataxia type 7 (SCA7), currently the only known form of autosomal dominant cerebellar ataxia type 2 (ADCA2; see this term), is a neurodegenerative disorder characterized by progressive ataxia, motor system abnormalities, dysarthria, dysphagia and retinal degeneration leading to progressive blindness.

SPINOCEREBELLAR ATAXIA TYPE 7 Is also known as ataxia with pigmentary retinopathy|sca7|cerebellar syndrome-pigmentary maculopathy syndrome

Related symptoms:

Global developmental delay
Ataxia
Nystagmus
Failure to thrive
Muscle weakness

SOURCES: ORPHANET MENDELIAN

More info about SPINOCEREBELLAR ATAXIA TYPE 7

Medium match FRIEDREICH ATAXIA

Friedreich ataxia (FRDA) is an inherited neurodegenerative disorder classically characterized by progressive gait and limb ataxia, dysarthria, dysphagia, oculomotor dysfunction, loss of deep tendon reflexes, pyramidal tract signs, scoliosis, and in some, cardiomyopathy, diabetes mellitus, visual loss and defective hearing.

FRIEDREICH ATAXIA Is also known as frda1|fa|frda

Related symptoms:

Hearing impairment
Scoliosis
Ataxia
Nystagmus
Muscle weakness

SOURCES: ORPHANET OMIM MENDELIAN

More info about FRIEDREICH ATAXIA

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Other less relevant matches:

Medium match MELAS

MELAS (Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke) syndrome is a rare progressive multisystemic disorder characterized by encephalomyopathy, lactic acidosis, and stroke-like episodes. Other features include endocrinopathy, heart disease, diabetes, hearing loss, and neurological and psychiatric manifestations.

MELAS Is also known as mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes|melas syndrome|mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes

Related symptoms:

Intellectual disability
Seizures
Global developmental delay
Short stature
Hearing impairment

SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about MELAS

Low match WILLIAMS SYNDROME

Williams syndrome is a rare genetic multisystemic neurodevelopmental disorder characterized by a distinct facial appearance, cardiac anomalies (most frequently supravalvular aortic stenosis), cognitive and developmental abnormalities, and connective tissue abnormalities (such as joint laxity)

Related symptoms:

Intellectual disability
Seizures
Global developmental delay
Short stature
Generalized hypotonia

SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about WILLIAMS SYNDROME

Low 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

Low match AMYOTROPHIC LATERAL SCLEROSIS 10 WITH OR WITHOUT FRONTOTEMPORAL DEMENTIA; ALS10

Related symptoms:

Ataxia
Spasticity
Cognitive impairment
Dysarthria
Skeletal muscle atrophy

SOURCES: OMIM MESH MENDELIAN

More info about AMYOTROPHIC LATERAL SCLEROSIS 10 WITH OR WITHOUT FRONTOTEMPORAL DEMENTIA; ALS10

Low match C11ORF73-RELATED AUTOSOMAL RECESSIVE HYPOMYELINATING LEUKODYSTROPHY

Hypomyelinating leukodystrophy-13 is an autosomal recessive neurodegenerative disorder characterized by infantile onset of delayed psychomotor development, axial hypotonia, and spasticity associated with delayed myelination and periventricular white matter abnormalities on brain imaging. More variable neurologic deficits, such as visual impairment, may also occur. Some patients may experience cardiac failure during acute illness (summary by Edvardson et al., 2016).For a general phenotypic description and a discussion of genetic heterogeneity of HLD, see {312080}.

C11ORF73-RELATED AUTOSOMAL RECESSIVE HYPOMYELINATING LEUKODYSTROPHY Is also known as c11orf73-related autosomal recessive hypomyelinating leukoencephalopathy|hypomyelinating leukodystrophy due to hikeshi deficiency

Related symptoms:

Global developmental delay
Generalized hypotonia
Ataxia
Nystagmus
Failure to thrive

SOURCES: ORPHANET OMIM MENDELIAN

More info about C11ORF73-RELATED AUTOSOMAL RECESSIVE HYPOMYELINATING LEUKODYSTROPHY

Low match DILATED CARDIOMYOPATHY WITH ATAXIA

Dilated cardiomyopathy with ataxia (DCMA) is characterized by severe early onset (before the age of three years) dilated cardiomyopathy (DCM) with conduction defects (long QT syndrome), non-progressive cerebellar ataxia, testicular dysgenesis, and 3-methylglutaconic aciduria.

Related symptoms:

Intellectual disability
Global developmental delay
Ataxia
Growth delay
Failure to thrive

SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about DILATED CARDIOMYOPATHY WITH ATAXIA

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

Top 5 symptoms//phenotypes associated to Congestive heart failure and Dysmetria

Symptoms // Phenotype	% cases
Ataxia	Very Common - Between 80% and 100% cases
Gait disturbance	Common - Between 50% and 80% cases
Dysarthria	Common - Between 50% and 80% cases
Muscle weakness	Uncommon - Between 30% and 50% cases
Global developmental delay	Uncommon - Between 30% and 50% cases

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Other less frequent symptoms

Patients with Congestive heart failure and Dysmetria. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases

Hyperreflexia Failure to thrive Dilated cardiomyopathy Ventricular hypertrophy Dysphagia Sudden cardiac death Hypertrophic cardiomyopathy Cardiomyopathy Fatigue Optic atrophy Visual impairment Spasticity Pain Chest pain Feeding difficulties Cerebral cortical atrophy Arrhythmia Nystagmus Babinski sign Diabetes mellitus Cognitive impairment Gait imbalance Depressivity Kyphosis Left ventricular hypertrophy Respiratory distress Hypertonia Involuntary movements Myopathy Peripheral neuropathy Ptosis Atrial fibrillation Motor delay Hearing impairment Abnormal cerebellum morphology Hypertension Areflexia Intellectual disability Ophthalmoparesis Sensorineural hearing impairment Growth delay Cerebellar atrophy Cerebral atrophy Visual loss Sensory impairment Mental deterioration

Rare Symptoms - Less than 30% cases

Constipation Cerebellar hypoplasia Gastroesophageal reflux Absent speech Dyspnea Abdominal pain Dementia Hypothyroidism Osteoporosis Autism Cerebral ischemia Abnormality of the dentition Delayed skeletal maturation Anemia Reduced systolic function Seizures Short stature Microcephaly Muscular hypotonia Cataract Skeletal muscle atrophy Elevated serum creatine phosphokinase Tremor Ventriculomegaly Respiratory insufficiency Anxiety Renal insufficiency Encephalopathy Myalgia Malabsorption Feeding difficulties in infancy Insomnia Cardiomegaly Mitral regurgitation Left ventricular failure Exercise intolerance Ragged-red muscle fibers Ischemic stroke Schizophrenia Atrioventricular block Generalized hypotonia Hypercalciuria Personality changes Bundle branch block Prolonged QT interval Multiple lipomas Progressive sensorineural hearing impairment Progressive external ophthalmoplegia Tubulointerstitial abnormality Hypogonadotrophic hypogonadism Developmental regression Postural instability Protruding ear Attention deficit hyperactivity disorder Stroke Neurological speech impairment Carious teeth Nausea and vomiting Tubulointerstitial nephritis Intrauterine growth retardation Cryptorchidism Flexion contracture Increased serum lactate Abnormality of the cardiovascular system Type II diabetes mellitus Hemiparesis Gingival overgrowth Clonus EMG abnormality Subvalvular aortic stenosis Proteinuria Chorea Abnormality of visual evoked potentials Cachexia Kyphoscoliosis Neuronal loss in central nervous system Pes planus Truncal ataxia Psychosis Ophthalmoplegia Abnormal EKG Gait ataxia Peripheral demyelination Photophobia Reduced tendon reflexes Visual field defect Glucose intolerance Ventricular arrhythmia Slurred speech Reduced visual acuity Incoordination Macular degeneration Positive Romberg sign Dysdiadochokinesis Dystonia Blindness Scoliosis Hyporeflexia Vertigo Falls Heart block Peripheral axonal neuropathy Hemeralopia Narrow face Increased bone mineral density Adducted thumb Abnormality of pelvic girdle bone morphology Increased body weight Infantile muscular hypotonia Reduced bone mineral density Arnold-Chiari malformation Abnormality of the fingernails Sacral dimple Pointed chin Bicuspid aortic valve Widely spaced teeth Hemivertebrae Progressive hearing impairment Nephrocalcinosis Abnormality of dental enamel Cutis laxa Spina bifida occulta Abnormal dermatoglyphics Precocious puberty Polycystic ovaries Polyuria Abnormality of lipid metabolism Megalocornea 3-Methylglutaric aciduria Restlessness Facial cleft Penile hypospadias Prematurely aged appearance High hypermetropia Celiac disease Vertebral segmentation defect Premature graying of hair Hallux valgus Open bite Loss of consciousness Tracheoesophageal fistula Dysphonia Normochromic microcytic anemia Cholelithiasis Redundant skin Hypercalcemia Failure to thrive in infancy Radioulnar synostosis Abnormality of cardiovascular system morphology Portal hypertension Hypoplastic toenails Abnormality of the voice Nephritis Chronic otitis media Obsessive-compulsive behavior Unilateral renal agenesis Abnormality of dental morphology Intellectual disability, severe Edema Hoarse voice Abnormal cardiac septum morphology Increased serum pyruvate Lower limb pain Wide mouth Craniosynostosis Blepharophimosis Scarring Broad forehead Paralysis Small for gestational age Corneal opacity Pulmonic stenosis Genu valgum Joint hyperflexibility Smooth philtrum Joint stiffness Autistic behavior Thick vermilion border Coarse facial features Glaucoma Micropenis High forehead Macrotia Osteopenia Arthralgia Umbilical hernia Irritability Joint laxity Cleft lip Intellectual disability, moderate Low-set, posteriorly rotated ears Abnormality of the kidney Hyperlordosis Oral cleft Everted lower lip vermilion Aortic valve stenosis Recurrent otitis media Mild global developmental delay Hypsarrhythmia Renal hypoplasia Small nail Thick lower lip vermilion Myocardial infarction Open mouth Abnormality of extrapyramidal motor function Noncompaction cardiomyopathy Abnormal form of the vertebral bodies Recurrent urinary tract infections Nephrolithiasis Febrile seizures Amblyopia Coarctation of aorta Hypoplasia of penis Sleep disturbance Esotropia Hypodontia Broad nasal tip Macroglossia Full cheeks Vesicoureteral reflux Dental malocclusion Otitis media Mitral valve prolapse Renal agenesis Microdontia Dehydration Tetralogy of Fallot Narrow forehead Hypotelorism Posterior embryotoxon Patellar dislocation Arnold-Chiari type I malformation Food intolerance Impaired visuospatial constructive cognition Supravalvular aortic stenosis Stereotypy Respiratory insufficiency due to muscle weakness Apathy Flat cornea Emotional lability Amyotrophic lateral sclerosis Agitation Global brain atrophy Abnormal social behavior Renovascular hypertension Abnormality of the gastric mucosa Infantile hypercalcemia Frontotemporal dementia Unilateral renal hypoplasia Bulimia Abnormality of the cerebral white matter Renal artery stenosis Muscular hypotonia of the trunk Coronary artery stenosis Semantic dementia Retinal arteriolar tortuosity Hyperacusis Abnormal lower motor neuron morphology Perseveration Primitive reflex Disinhibition Pulmonary edema Pelvic kidney Supranuclear gaze palsy Calcification of the aorta Myxomatous mitral valve degeneration Abnormality of the bladder Bradycardia Premature atrial contractions Skeletal myopathy Left ventricular noncompaction Sinus bradycardia Rigidity Atrial flutter Myocarditis Aggressive behavior Thromboembolism Amyloidosis Abnormality of the thyroid gland Pericardial effusion Increased variability in muscle fiber diameter Ventricular fibrillation Dilatation Paroxysmal bursts of laughter Nystagmus-induced head nodding Abnormal carotid artery morphology Abnormality of the diencephalon Medial flaring of the eyebrow Elfin facies Bilateral vocal cord paralysis Thyroid hemiagenesis Overfriendliness Atrophy/Degeneration involving the corticospinal tracts Early onset of sexual maturation Dyssynergia Stellate iris Functional abnormality of male internal genitalia Descending aorta hypoplasia Vocal cord dysfunction Delayed myelination Leukodystrophy Nevus flammeus Large earlobe Bladder diverticulum Perineal hypospadias Lacrimation abnormality 3-Methylglutaconic aciduria Abnormal renal morphology Peripheral pulmonary artery stenosis Decreased plasma carnitine Periorbital fullness Abnormality of refraction Dyslexia Villous atrophy Enuresis Abnormality of the cerebral vasculature Abnormality of the neck Right ventricular hypertrophy Microcytic anemia Paroxysmal ventricular tachycardia Testicular dysgenesis Soft skin Poor coordination Pulmonary artery stenosis Abnormality of the vasculature Glutaric aciduria Multiple renal cysts Chronic constipation Nonprogressive cerebellar ataxia Down-sloping shoulders Vocal cord paralysis Blue irides Microvesicular hepatic steatosis Hypoplasia of the zygomatic bone Cystic renal dysplasia Peptic ulcer Synostosis of joints Renal duplication Nocturia Abnormality of the periventricular white matter Hypospadias Clinodactyly of the 5th finger Obsessive-compulsive trait Hypoglycemia Aortic arch aneurysm Overriding aorta Abnormality of the ankles Vascular tortuosity Postnatal growth retardation Hepatic steatosis Aciduria Colonic diverticula Aplasia/Hypoplasia of the iris Periorbital edema Urethral stenosis Rectal prolapse Arterial stenosis Dysgraphia Abnormality of nervous system morphology Phonophobia Parathyroid hyperplasia Abnormal glucose tolerance Abnormal endocardium morphology Increased nuchal translucency Retinal vascular tortuosity Hypokinesia Abnormality of the genital system Decreased testicular size Thyroid hypoplasia Recurrent respiratory infections Reduced consciousness/confusion Inguinal hernia Impaired visually enhanced vestibulo-ocular reflex Jaundice Acidosis Weight loss Hypogonadism Myoclonus Rod-cone dystrophy Headache Diarrhea Vomiting Short neck Fever Hepatomegaly Hypertelorism Atrophic superior cerebellar peduncle Structural foot deformity Apnea Abolished vibration sense Spinal cord posterior columns myelin loss Palmar hyperhidrosis Temporal optic disc pallor Abnormality of the dentate nucleus Decreased pyruvate carboxylase activity Mitochondrial malic enzyme reduced Cervical spinal cord atrophy Muscular subvalvular aortic stenosis Decreased amplitude of sensory action potentials Hemifacial hypertrophy Abnormality of the autonomic nervous system Incomprehensible speech Upper limb amyotrophy EEG abnormality Abnormality of the pinna Concentric hypertrophic cardiomyopathy Hirsutism Bilateral sensorineural hearing impairment Generalized-onset seizure Pigmentary retinopathy Cerebral calcification Amenorrhea Specific learning disability Hip dysplasia Memory impairment Migraine Generalized myoclonic seizures Muscle cramps Coma Polyneuropathy Nephropathy Polymicrogyria Erythema Nausea Lactic acidosis Ichthyosis Confusion Paresthesia Anal atresia Delayed puberty Congenital cataract Arthrogryposis multiplex congenita Lethargy Generalized tonic-clonic seizures Pruritus Nyctalopia Abnormality of the liver Cerebellar cortical atrophy Diabetic ketoacidosis Pulmonary arterial hypertension Pallor Intention tremor Optic disc pallor Progressive cerebellar ataxia Neurodegeneration Sensory neuropathy Inability to walk Tachycardia Unsteady gait Lower limb muscle weakness Abnormality of movement Abnormality of eye movement Abnormality of the foot Limb muscle weakness Abnormal pyramidal sign Difficulty walking Clumsiness Hyperactivity Pes cavus Talipes equinovarus Abnormal fundus morphology Restless legs Orofacial dyskinesia Cone/cone-rod dystrophy Neonatal hypotonia Gait instability, worse in the dark Distal sensory impairment of all modalities Distal sensory loss of all modalities Sensory ataxia Gliosis Distal sensory impairment Palpitations Lower limb spasticity Decreased sensory nerve conduction velocity Increased reactive oxygen species production Hand muscle atrophy Sinus tachycardia Abnormal saccadic eye movements Abnormality of cardiovascular system physiology Lower limb amyotrophy Abnormal echocardiogram Poor fine motor coordination T-wave inversion Asymmetric septal hypertrophy Impaired proprioception Spinocerebellar tract degeneration Hyposmia Areflexia of lower limbs Myocardial fibrosis Ketoacidosis Limb ataxia Urinary bladder sphincter dysfunction Ketosis Thoracic scoliosis Optic neuropathy Hyperactive deep tendon reflexes Decreased motor nerve conduction velocity Sensory axonal neuropathy Hammertoe Impaired vibratory sensation Spastic paraparesis Paraparesis Muscle stiffness Insulin resistance Spastic gait Nephrotic syndrome Status epilepticus Abnormal heart morphology Spontaneous hematomas Cochlear malformation Edema of the dorsum of hands Abnormal mitochondrial morphology Paronychia Spotty hypopigmentation Abnormal macular morphology Crohn's disease Abnormality of the cerebellar vermis Psychotic episodes Renal Fanconi syndrome Abnormal nerve conduction velocity Auditory hallucinations Amaurosis fugax Gastroparesis Leber optic atrophy Cochlear degeneration Persistence of primary teeth Writer's cramp Muscle fiber atrophy Psychomotor deterioration Dysesthesia Motor polyneuropathy Episodic vomiting Abnormality of the renal tubule Hemianopia Ileus Proximal tubulopathy Abnormality of peripheral nerve conduction Retinal pigment epithelial atrophy Speech apraxia Progressive night blindness Abnormal mitochondrial shape Stroke-like episode Wide nasal bridge Patent ductus arteriosus Pectus excavatum Obesity Hernia Midface retrusion Malar flattening Long philtrum Short nose Intellectual disability, mild Behavioral abnormality Atrial septal defect Ventricular septal defect Macrocephaly Myopia Epicanthus Paralytic ileus Depressed nasal bridge Delayed speech and language development Cleft palate Abnormal facial shape Strabismus Micrognathia Prominent ear helix Morphological abnormality of the inner ear Morphological abnormality of the vestibule of the inner ear Bilateral intracranial calcifications Episodic quadriplegia Abnormality of acid-base homeostasis Homonymous hemianopia Abnormal cochlea morphology Seborrheic dermatitis Anterior hypopituitarism Hypertrichosis Easy fatigability Focal segmental glomerulosclerosis Hemiplegia/hemiparesis Mask-like facies Bifid scrotum Aplasia/Hypoplasia of the cerebellum Intestinal obstruction Hyponatremia Abnormality of mitochondrial metabolism Aortic aneurysm Hemiplegia Bilateral ptosis Decreased nerve conduction velocity Chronic kidney disease Growth abnormality Hyperkinesis Overlapping toe Goiter Mutism Hypopigmented skin patches External ophthalmoplegia Pancreatitis Purpura Type I diabetes mellitus Generalized hirsutism Cardiac arrest Cerebral visual impairment Hallucinations Abnormality of retinal pigmentation Anorexia Decreased body weight Abnormality of neuronal migration Adrenal insufficiency Wolff-Parkinson-White syndrome Hashimoto thyroiditis Increased CSF lactate Visual hallucinations Renal tubular dysfunction Aortic dissection Facial diplegia Cardiorespiratory arrest Delusions Transient ischemic attack Posterior subcapsular cataract Mitochondrial myopathy Hypoparathyroidism Xerostomia Vitiligo Neonatal hypoglycemia Atopic dermatitis Aphasia Drowsiness Distal arthrogryposis Pulmonary embolism Primary adrenal insufficiency Abnormality of immune system physiology Thyroiditis Rhabdomyolysis Hyperthyroidism Basal ganglia calcification Glomerulopathy Vertebral fusion Hyperkalemia Dysphasia Vestibular dysfunction Increased adipose tissue

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