Congestive heart failure, and Progressive cerebellar ataxia

Diseases related with Congestive heart failure and Progressive cerebellar ataxia

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


Top matches:

High match SPINOCEREBELLAR ATAXIA WITH AXONAL NEUROPATHY TYPE 2


Spinocerebellar ataxia with axonal neuropathy type 2 (AOA2) is a rare autosomal recessive cerebellar ataxia (ARCA), characterized by progressive cerebellar ataxia associated with frequent oculomotor apraxia, severe neuropathy and an elevated serum alpha-fetoprotein (AFP) level.

SPINOCEREBELLAR ATAXIA WITH AXONAL NEUROPATHY TYPE 2 Is also known as ataxia-oculomotor apraxia 2|scan 2|scar1|ataxia-ocular apraxia 2|aoa2|ataxia-oculomotor apraxia type 2

Related symptoms:

  • Scoliosis
  • Ataxia
  • Nystagmus
  • Strabismus
  • Muscle weakness


SOURCES: OMIM ORPHANET MENDELIAN

More info about SPINOCEREBELLAR ATAXIA WITH AXONAL NEUROPATHY TYPE 2

High 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

High match ISOLATED COMPLEX I DEFICIENCY


Isolated complex I deficiency is a rare inborn error of metabolism due to mutations in nuclear or mitochondrial genes encoding subunits or assembly factors of the human mitochondrial complex I (NADH: ubiquinone oxidoreductase) and is characterized by a wide range of manifestations including marked and often fatal lactic acidosis, cardiomyopathy, leukoencephalopathy, pure myopathy and hepatopathy with tubulopathy. Among the numerous clinical phenotypes observed are Leigh syndrome, Leber hereditary optic neuropathy and MELAS syndrome (see these terms).

ISOLATED COMPLEX I DEFICIENCY Is also known as isolated nadh-ubiquinone reductase deficiency|nadh:q(1) oxidoreductase deficiency|isolated nadh-coq reductase deficiency|isolated mitochondrial respiratory chain complex i deficiency|isolated nadh-coenzyme q reductase deficiency|nadh-coenzyme q reductase

Related symptoms:

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


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about ISOLATED COMPLEX I DEFICIENCY

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Other less relevant matches:

High 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

Low 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

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 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 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

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.

DILATED CARDIOMYOPATHY WITH ATAXIA Is also known as mga5|dcma|3-methylglutaconic aciduria type 5|cardiomyopathy, dilated, with ataxia|mga, type v|dcma syndrome

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

Top 5 symptoms//phenotypes associated to Congestive heart failure and Progressive cerebellar ataxia

Symptoms // Phenotype % cases
Ataxia Very Common - Between 80% and 100% cases
Dysphagia Common - Between 50% and 80% cases
Nystagmus Common - Between 50% and 80% cases
Babinski sign Common - Between 50% and 80% cases
Dysarthria Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Global developmental delay Failure to thrive Muscle weakness Gait disturbance Fatigue Cardiomyopathy Optic atrophy Arrhythmia Abnormal pyramidal sign Ventricular hypertrophy Spasticity Cerebellar atrophy Areflexia Dystonia Pericardial effusion Visual impairment Hyperreflexia Growth delay Intellectual disability Pallor Left ventricular hypertrophy Dilated cardiomyopathy Feeding difficulties Abnormality of eye movement Dysmetria Abnormal cerebellum morphology Edema Mental deterioration Scoliosis Anemia Chorea Strabismus Neurodegeneration Peripheral neuropathy Skeletal muscle atrophy Peripheral demyelination Sensory impairment Hyporeflexia

Rare Symptoms - Less than 30% cases


Limb ataxia Gliosis Dysdiadochokinesis Incoordination Ventricular arrhythmia Cyanosis Cardiomegaly Atrial fibrillation Gait ataxia Leukodystrophy Optic neuropathy Intention tremor Optic disc pallor Chest pain Abnormality of the foot Falls Peripheral axonal neuropathy Abnormality of movement Distal sensory impairment Generalized myoclonic seizures Pes cavus Abnormal EKG Vomiting Hepatomegaly Intrauterine growth retardation Cognitive impairment Generalized hypotonia Seizures Tremor Respiratory insufficiency Blindness Myopathy Supranuclear gaze palsy Cerebral atrophy Encephalopathy Myoclonus Neuronal loss in central nervous system Hypoglycemia Muscular hypotonia of the trunk Reduced systolic function Sudden cardiac death Abnormal saccadic eye movements Positive Romberg sign Hepatic steatosis Sensory neuropathy Limb muscle weakness Hypertrophic cardiomyopathy Pain Kyphosis Respiratory distress Talipes equinovarus Hypertonia Rigidity Ptosis Hearing impairment Depressivity Impaired proprioception Global brain atrophy Gait imbalance Aggressive behavior Difficulty walking Ophthalmoplegia Increased antibody level in blood Urinary bladder sphincter dysfunction Sensory axonal neuropathy Hypoalbuminemia Motor delay Truncal ataxia Kyphoscoliosis Oculomotor apraxia Dementia Visual loss Slurred speech Cerebral cortical atrophy Reduced visual acuity Decreased motor nerve conduction velocity Hepatosplenomegaly Abdominal pain Recurrent respiratory infections Exercise-induced lactic acidemia Generalized tonic-clonic seizures Corneal opacity Exertional dyspnea Abnormal myocardium morphology Abnormal heart valve morphology Aseptic necrosis Dyspnea Multiple myeloma Hepatocellular carcinoma Abnormality of the spleen Thoracic kyphosis Osteopenia Proteinuria Osteoporosis Slow saccadic eye movements Vertebral compression fractures Hypercoagulability Malabsorption Bulbar palsy Menorrhagia Abnormality of the sternum Short stature Bone pain Hydrops fetalis Decreased body weight Progressive neurologic deterioration Delayed skeletal maturation Pulmonary arterial hypertension Hydrocephalus Cirrhosis Diarrhea Hematuria Pancytopenia Syncope Abnormal bleeding Abdominal distention Ascites Myopia Lymphopenia Increased bone mineral density Lower limb hyperreflexia Abnormality of the thorax Abnormal retinal morphology Interstitial pulmonary abnormality Restrictive ventilatory defect Petechiae Opisthotonus Pulmonary fibrosis Clubbing Portal hypertension Osteolysis Thrombocytopenia Delayed puberty Lymphadenopathy Cholelithiasis Increased susceptibility to fractures Splenomegaly Leukopenia Epistaxis Atrial flutter Avascular necrosis of the capital femoral epiphysis Delayed myelination Ophthalmoparesis Cone/cone-rod dystrophy Macular degeneration Psychosis Neonatal hypotonia Photophobia Abnormality of the periventricular white matter Clonus Abnormality of the cerebral white matter Restless legs Absent speech Flexion contracture Semantic dementia Bulimia Perseveration Primitive reflex Disinhibition Pulmonary edema Abnormal lower motor neuron morphology Orofacial dyskinesia Hemeralopia Insomnia Perineal hypospadias Penile hypospadias 3-Methylglutaric aciduria Noncompaction cardiomyopathy Testicular dysgenesis Glutaric aciduria Nonprogressive cerebellar ataxia Microvesicular hepatic steatosis 3-Methylglutaconic aciduria Microcytic anemia Abnormal fundus morphology Hypokinesia Prolonged QT interval Abnormality of the genital system Mitral regurgitation Decreased testicular size Aciduria Postnatal growth retardation Hypospadias Cryptorchidism Frontotemporal dementia Agitation Restrictive deficit on pulmonary function testing Hematological neoplasm Distal sensory impairment of all modalities Distal sensory loss of all modalities Sensory ataxia Sleep myoclonus Abnormality of the acoustic reflex Abnormality of ion homeostasis Cardiac valve calcification Horizontal supranuclear gaze palsy Decreased beta-glucocerebrosidase protein and activity Ventriculomegaly Erlenmeyer flask deformity of the femurs Orthopnea Mitral valve calcification Aortic valve calcification Spontaneous hematomas Abnormal thrombosis Generalized osteosclerosis Astrocytosis Protein-losing enteropathy Gait instability, worse in the dark Dilatation Amyotrophic lateral sclerosis Left ventricular noncompaction Emotional lability Personality changes Apathy Respiratory insufficiency due to muscle weakness Stereotypy Paroxysmal ventricular tachycardia Premature atrial contractions Skeletal myopathy Left ventricular failure Sinus bradycardia Bradycardia Abnormal mitochondria in muscle tissue Myocarditis Thromboembolism Amyloidosis Abnormality of the thyroid gland Bundle branch block Increased variability in muscle fiber diameter Ventricular fibrillation Atrioventricular block Acute necrotizing encephalopathy Dyskinesia Congenital lactic acidosis Thoracic scoliosis Areflexia of lower limbs Myocardial fibrosis Increased reactive oxygen species production Ketoacidosis Ketosis Heart block Abnormality of visual evoked potentials Hyperactive deep tendon reflexes Spinocerebellar tract degeneration Visual field defect Glucose intolerance Hammertoe Impaired vibratory sensation Cachexia Reduced tendon reflexes Spastic paraparesis Paraparesis Hyposmia Asymmetric septal hypertrophy Insulin resistance Concentric hypertrophic cardiomyopathy Muscular subvalvular aortic stenosis Decreased amplitude of sensory action potentials Hemifacial hypertrophy Abnormality of the autonomic nervous system Incomprehensible speech Upper limb amyotrophy Cerebellar cortical atrophy Diabetic ketoacidosis Subvalvular aortic stenosis Decreased sensory nerve conduction velocity Hand muscle atrophy Sinus tachycardia Abnormality of cardiovascular system physiology Lower limb amyotrophy Abnormal echocardiogram Poor fine motor coordination T-wave inversion Muscle stiffness Spastic gait Mitochondrial malic enzyme reduced Sensorimotor neuropathy Impaired smooth pursuit Progressive gait ataxia Cerebellar vermis atrophy Gaze-evoked nystagmus Postural tremor Premature ovarian insufficiency Hypercholesterolemia Diplopia Decreased number of large peripheral myelinated nerve fibers Telangiectasia Choreoathetosis Apraxia Abnormality of extrapyramidal motor function Polyneuropathy Distal amyotrophy Distal muscle weakness Elevated serum creatine phosphokinase Head tremor Saccadic smooth pursuit Lower limb spasticity Lower limb muscle weakness Involuntary movements Clumsiness Palpitations Inability to walk Tachycardia Vertigo Unsteady gait Pes planus Conjunctival telangiectasia Hyperactivity Diabetes mellitus Impaired distal tactile sensation Chronic axonal neuropathy Diffuse cerebellar atrophy Impaired distal vibration sensation Elevated alpha-fetoprotein Pontocerebellar atrophy Cervical spinal cord atrophy Decreased pyruvate carboxylase activity Necrotizing encephalopathy Shock Weak cry Poor eye contact Progressive spasticity Adrenal insufficiency Oral-pharyngeal dysphagia Ragged-red muscle fibers Leukoencephalopathy Pancreatitis Renal tubular acidosis Exercise intolerance Horizontal nystagmus Cardiac arrest Aspiration Wide anterior fontanel Coarctation of aorta Congenital diaphragmatic hernia Pigmentary retinopathy Basal ganglia calcification Progressive encephalopathy Increased serum lactate Stiff neck Progressive macrocephaly Cardiogenic shock Macrovesicular hepatic steatosis Infantile encephalopathy Biventricular hypertrophy Axial dystonia Decreased activity of mitochondrial respiratory chain Acute pancreatitis Mitochondrial myopathy Cerebral edema Severe lactic acidosis Corpus callosum atrophy Wolff-Parkinson-White syndrome Increased CSF lactate Nemaline bodies Aspiration pneumonia Cardiorespiratory arrest Febrile seizures Migraine Abnormality of the dentate nucleus Abnormal facial shape Pneumonia Patent ductus arteriosus Hernia Renal insufficiency Atrial septal defect Macrocephaly Muscular hypotonia Sensorineural hearing impairment Respiratory failure Micrognathia Atrophic superior cerebellar peduncle Impaired visually enhanced vestibulo-ocular reflex Structural foot deformity Abolished vibration sense Spinal cord posterior columns myelin loss Palmar hyperhidrosis Temporal optic disc pallor Agenesis of corpus callosum Acidosis Premature birth Severe global developmental delay Brain atrophy Coma Metabolic acidosis Hepatic failure Lactic acidosis Stage 5 chronic kidney disease Talipes Lethargy Stroke Proximal muscle weakness Retinopathy Abnormality of the liver Irritability Developmental regression Feeding difficulties in infancy Apnea Abnormality of the eye Myalgia Normochromic microcytic anemia



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