Congestive heart failure, and Chorea

Diseases related with Congestive heart failure and Chorea

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


Top matches:

Medium match FAMILIAL DYSKINESIA AND FACIAL MYOKYMIA


Familial dyskinesia and facial myokymia is a rare paroxysmal movement disorder, with childhood or adolescent onset, characterized by paroxysmal choreiform, dystonic, and myoclonic movements involving the limbs (mostly distal upper limbs), neck and/or face, which can progressively increase in both frequency and severity until they become nearly constant. Patients may also present with delayed motor milestones, perioral and periorbital dyskinesias, dysarthria, hypotonia, and weakness.

FAMILIAL DYSKINESIA AND FACIAL MYOKYMIA Is also known as fdfm

Related symptoms:

  • Intellectual disability
  • Generalized hypotonia
  • Motor delay
  • Hyperreflexia
  • Dysarthria


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about FAMILIAL DYSKINESIA AND FACIAL MYOKYMIA

Medium match ACERULOPLASMINEMIA


Aceruloplasminemia is an adult-onset disorder of neurodegeneration with brain iron accumulation (NBIA; see this term) characterized by anemia, retinal degeneration, diabetes and various neurological symptoms.

ACERULOPLASMINEMIA Is also known as hereditary ceruloplasmin deficiency

Related symptoms:

  • Ataxia
  • Spasticity
  • Cognitive impairment
  • Anemia
  • Delayed speech and language development


SOURCES: OMIM ORPHANET MENDELIAN

More info about ACERULOPLASMINEMIA

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Other less relevant matches:

Medium 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

Medium match MCLEOD NEUROACANTHOCYTOSIS SYNDROME


McLeod neuroacanthocytosis syndrome (MLS) is a form of neuroacanthocytosis (see this term) and is characterized clinically by a Huntington's disease-like phenotype with an involuntary hyperkinetic movement disorder, psychiatric manifestations and cognitive alterations, and biochemically by absence of the Kx antigen and by weak expression of the Kell antigens.

MCLEOD NEUROACANTHOCYTOSIS SYNDROME Is also known as mls|x-linked mcleod syndrome

Related symptoms:

  • Seizures
  • Short stature
  • Muscle weakness
  • Cognitive impairment
  • Anemia


SOURCES: ORPHANET OMIM MENDELIAN

More info about MCLEOD NEUROACANTHOCYTOSIS SYNDROME

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

Low match MALIGNANT HYPERTHERMIA OF ANESTHESIA


Malignant hyperthermia (MH) is a pharmacogenetic disorder of skeletal muscle that presents as a hypermetabolic response to potent volatile anesthetic gases such as halothane, sevoflurane, desflurane and the depolarizing muscle relaxant succinylcholine, and rarely, to stresses such as vigorous exercise and heat.

MALIGNANT HYPERTHERMIA OF ANESTHESIA Is also known as hyperthermia of anesthesia

Related symptoms:

  • Fever
  • Metabolic acidosis
  • Muscle stiffness
  • Ventricular tachycardia
  • Tachypnea


SOURCES: ORPHANET MENDELIAN

More info about MALIGNANT HYPERTHERMIA OF ANESTHESIA

Low match HYPERKALEMIC PERIODIC PARALYSIS


Hyperkalemic periodic paralysis (HyperPP) is a muscle disorder characterized by episodic attacks of muscle weakness associated with an increase in serum potassium concentration.

HYPERKALEMIC PERIODIC PARALYSIS Is also known as adynamia episodica hereditaria|hypp|familial hyperkalemic periodic paralysis|hyperkpp|gamstorp disease|familial hyperpp|gamstorp episodic adynamy|hyperpp|hyperkalemic pp|primary hyperpp|primary hyperkalemic periodic paralysis

Related symptoms:

  • Flexion contracture
  • Skeletal muscle atrophy
  • Gait disturbance
  • Respiratory insufficiency
  • Myopathy


SOURCES: ORPHANET MENDELIAN

More info about HYPERKALEMIC PERIODIC PARALYSIS

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 PHOSPHOENOLPYRUVATE CARBOXYKINASE DEFICIENCY


Phosphoenolpyruvate carboxykinase (PEPCK) deficiency is a gluconeogenesis disorder that results from impairment in the enzyme PEPCK, and comprising cytosolic (PEPCK1) and mitochondrial (PEPCK2) forms of enzyme deficiency. Onset of symptoms is neonatal or a few months after birth and includes hypoglycemia associated with acute episodes of severe lactic acidosis, progressive neurological deterioration, severe liver failure, renal tubular acidosis and Fanconi syndrome. Patients also present progressive multisystem damage with failure to thrive, muscular weakness and hypotonia, developmental delay with seizures, spasticity, lethargy, microcephaly and cardiomyopathy. To date, there is no conclusive evidence of the existence of an isolated form of this disorder.

PHOSPHOENOLPYRUVATE CARBOXYKINASE DEFICIENCY Is also known as pepck deficiency|pc deficiency|leigh necrotizing encephalopathy due to pyruvate carboxylase deficiency|ataxia with lactic acidosis ii|leigh syndrome due to pyruvate carboxylase deficiency

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Failure to thrive


SOURCES: ORPHANET OMIM MENDELIAN

More info about PHOSPHOENOLPYRUVATE CARBOXYKINASE DEFICIENCY

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

Symptoms // Phenotype % cases
Dysarthria Common - Between 50% and 80% cases
Ataxia Uncommon - Between 30% and 50% cases
Hypertonia Uncommon - Between 30% and 50% cases
Dystonia Uncommon - Between 30% and 50% cases
Gait disturbance Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Involuntary movements Spasticity Babinski sign Cognitive impairment Dysphagia Slurred speech Skeletal muscle atrophy Arrhythmia Respiratory distress Areflexia Dementia Rigidity Sensory neuropathy Sensory axonal neuropathy Elevated serum creatine phosphokinase Depressivity Left ventricular hypertrophy Dilated cardiomyopathy Tremor Cardiomyopathy Gait ataxia Difficulty walking Nystagmus Neurodegeneration Abnormality of movement Generalized hypotonia Peripheral neuropathy Muscle weakness

Rare Symptoms - Less than 30% cases


Global developmental delay Failure to thrive Peripheral demyelination Sensory impairment Progressive cerebellar ataxia Ventricular hypertrophy Abnormal pyramidal sign Peripheral axonal neuropathy Abnormality of the foot Sensorimotor neuropathy Flexion contracture Cerebellar atrophy Pes cavus Scoliosis Limb ataxia Intellectual disability Truncal ataxia Paresthesia Muscle stiffness Reduced tendon reflexes Optic atrophy Visual impairment Ketoacidosis Supraventricular tachycardia Ventricular extrasystoles Bowel incontinence Ventricular arrhythmia Atrial fibrillation Lower limb muscle weakness Decreased motor nerve conduction velocity Abnormality of the cerebral white matter Myopathy Cerebral palsy Seizures Metabolic acidosis Tachypnea Gait imbalance Impaired proprioception Hyperkalemia Urinary bladder sphincter dysfunction Malignant hyperthermia Hepatomegaly Chest pain Respiratory insufficiency Clonus Emotional lability Insomnia Personality changes Muscular hypotonia of the trunk Dyskinesia Choreoathetosis Neuronal loss in central nervous system Anxiety Anemia Fatigue Diabetes mellitus Confusion Cerebral cortical atrophy Behavioral abnormality Leukodystrophy Cerebral atrophy Abnormality of extrapyramidal motor function Motor delay Memory impairment Parkinsonism Orofacial dyskinesia Hyperreflexia Sinus tachycardia Lower limb amyotrophy Positive Romberg sign Decreased amplitude of sensory action potentials Abnormality of cardiovascular system physiology Hemifacial hypertrophy Abnormal saccadic eye movements Chronic metabolic acidosis Abnormality of the autonomic nervous system Increased head circumference Hand muscle atrophy Reduced systolic function Decreased sensory nerve conduction velocity Diabetic ketoacidosis Incomprehensible speech Periventricular cysts Poor fine motor coordination Concentric hypertrophic cardiomyopathy Upper limb amyotrophy Cerebellar cortical atrophy Necrotizing encephalopathy Abnormal echocardiogram Absent speech T-wave inversion Glucose intolerance Intention tremor Palpitations Clumsiness Lower limb spasticity Spastic gait Insulin resistance Paraparesis Spastic paraparesis Incoordination Cachexia Dysdiadochokinesis Impaired vibratory sensation Hammertoe Visual field defect Subvalvular aortic stenosis Hyperactive deep tendon reflexes Congenital lactic acidosis Optic neuropathy Thoracic scoliosis Abnormal EKG Abnormality of visual evoked potentials Heart block Ketosis Proximal renal tubular acidosis Myocardial fibrosis Areflexia of lower limbs Hyposmia Spinocerebellar tract degeneration Asymmetric septal hypertrophy Increased reactive oxygen species production Temporal optic disc pallor Cystinuria Macrocephaly Lactic acidosis Intermittent painful muscle spasms Abnormality of skeletal muscles Hypoglycemia Acidosis Pneumonia Encephalopathy Renal insufficiency Abnormality of masseter muscle Cardiomyocyte mitochondrial proliferation Vomiting Intellectual disability, severe Myalgia Increased serum lactate Muscular hypotonia Abnormality of the periventricular white matter Feeding difficulties in infancy Fasciculations EMG abnormality Hypokalemia Hyponatremia Myotonia Ophthalmoparesis Skeletal muscle hypertrophy Episodic flaccid weakness Periodic hyperkalemic paralysis Feeding difficulties Necrotizing myopathy Elevated creatine kinase after exercise Muscular subvalvular aortic stenosis Fever Cervical spinal cord atrophy Mitochondrial malic enzyme reduced Decreased pyruvate carboxylase activity Abnormality of the dentate nucleus Increased serum pyruvate Delayed myelination Palmar hyperhidrosis Hyperalaninemia Spinal cord posterior columns myelin loss Abolished vibration sense Structural foot deformity Impaired visually enhanced vestibulo-ocular reflex Atrophic superior cerebellar peduncle Ventricular tachycardia Hypercapnia Dysgraphia Periventricular leukomalacia Renal tubular acidosis Abnormality of the coagulation cascade Acute kidney injury Athetosis Myoglobinuria Hyperphosphatemia CNS hypomyelination Hyperammonemia Acute hepatic failure Acute rhabdomyolysis Exercise-induced rhabdomyolysis High-output congestive heart failure Left bundle branch block Optic disc pallor Distal amyotrophy Muscle fibrillation Increased serum ferritin Blepharospasm Cogwheel rigidity Scanning speech Refractory anemia Decreased serum ceruloplasmin Elevated hepatic iron concentration Decreased serum iron Aceruloplasminemia Strabismus Hyporeflexia Distal muscle weakness Distal sensory impairment Hyperkinesis Polyneuropathy Apraxia Telangiectasia Diplopia Oculomotor apraxia Hypercholesterolemia Hypoalbuminemia Premature ovarian insufficiency Postural tremor Increased antibody level in blood Gaze-evoked nystagmus Cerebellar vermis atrophy Progressive gait ataxia Impaired smooth pursuit Polyuria Torticollis Decreased number of large peripheral myelinated nerve fibers Agitation Myoclonus Delayed gross motor development Resting tremor Limb hypertonia Myokymia Paroxysmal dyskinesia Facial myokymia Edema Aggressive behavior Stereotypy Respiratory insufficiency due to muscle weakness Apathy Amyotrophic lateral sclerosis Global brain atrophy Type I diabetes mellitus Frontotemporal dementia Abnormal lower motor neuron morphology Supranuclear gaze palsy Pulmonary edema Disinhibition Primitive reflex Perseveration Bulimia Semantic dementia Delayed speech and language development Hypothyroidism Poor speech Retinal degeneration Cirrhosis Head tremor Saccadic smooth pursuit Abnormal cerebellum morphology Kyphosis Abnormal social behavior Abnormal lactate dehydrogenase activity Caudate atrophy Abnormal corpus striatum morphology Recurrent singultus Blood group antigen abnormality Abnormal facial expression Hyporeflexia of upper limbs Abnormality of the astrocytes Hearing impairment Pain Ptosis Talipes equinovarus Visual loss Generalized limb muscle atrophy Hyperactivity Reduced visual acuity Kyphoscoliosis Pes planus Hypertrophic cardiomyopathy Pallor Limb muscle weakness Abnormality of eye movement Dysmetria Unsteady gait Vertigo Tachycardia Falls Inability to walk Impaired temperature sensation Personality disorder Conjunctival telangiectasia Generalized-onset seizure Pontocerebellar atrophy Elevated alpha-fetoprotein Impaired distal vibration sensation Diffuse cerebellar atrophy Chronic axonal neuropathy Impaired distal tactile sensation Short stature Splenomegaly Hyperhidrosis Dyspnea Hepatosplenomegaly Elevated hepatic transaminase Mental deterioration Hemolytic anemia Hallucinations Increased muscle fatiguability Cardiac arrest Sleep apnea Obsessive-compulsive behavior Ventricular fibrillation Rhabdomyolysis Impaired vibration sensation in the lower limbs Impaired pain sensation Restlessness Bipolar affective disorder Motor axonal neuropathy Acanthocytosis Tics Excessive salivation Hyporeflexia of lower limbs Neuronal loss in the cerebral cortex



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