Congestive heart failure, and Dyskinesia

Diseases related with Congestive heart failure and Dyskinesia

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

Top matches:

ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 5; ARVD5 Is also known as arrhythmogenic right ventricular cardiomyopathy 5|arvc5

Related symptoms:

  • Cardiomyopathy
  • Congestive heart failure
  • Dilated cardiomyopathy
  • Dyskinesia
  • Chest pain


SOURCES: MESH OMIM MENDELIAN

More info about ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 5; ARVD5

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

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

Other less relevant matches:

Triosephosphate isomerase (TPI) deficiency is a severe autosomal recessive inherited multisystem disorder of glycolytic metabolism characterized by hemolytic anemia and neurodegeneration.

Related symptoms:

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Muscle weakness
  • Muscular hypotonia


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about TRIOSE PHOSPHATE-ISOMERASE DEFICIENCY

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

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

Familial glucocorticoid deficiency-5 is characterized by resistance to adrenocorticotropic hormone (ACTH) and isolated glucocorticoid deficiency, with typical biochemical findings of low serum cortisol levels and high plasma ACTH. Patients commonly present with hyperpigmentation (Prasad et al., 2014).For a discussion of genetic heterogeneity of familial glucocorticoid deficiency, see GCCD1 (OMIM ).

Related symptoms:

  • Ventricular septal defect
  • Congestive heart failure
  • Truncus arteriosus


SOURCES: OMIM MENDELIAN

More info about GLUCOCORTICOID DEFICIENCY 5; GCCD5

Arrhythmogenic right ventricular cardiomyopathy/dysplasia is characterized by progressive fibrofatty myocardial replacement, primarily of the right ventricle. The main clinical features are structural and functional abnormalities of the ventricles, electrocardiographic depolarization/repolarization changes, reentrant arrhythmias, and sudden death (summary by van Hengel et al., 2013).

ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 13; ARVD13 Is also known as arvc13|arrhythmogenic right ventricular cardiomyopathy 13

Related symptoms:

  • Cardiomyopathy
  • Congestive heart failure
  • Arrhythmia
  • Tachycardia
  • Syncope


SOURCES: OMIM MENDELIAN

More info about ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 13; ARVD13

PARKINSON DISEASE 6, AUTOSOMAL RECESSIVE EARLY-ONSET; PARK6 Is also known as parkinson disease 6, early-onset|park6

Related symptoms:

  • Pain
  • Cognitive impairment
  • Hyperreflexia
  • Tremor
  • Behavioral abnormality


SOURCES: OMIM MESH MENDELIAN

More info about PARKINSON DISEASE 6, AUTOSOMAL RECESSIVE EARLY-ONSET; PARK6

CARDIOMYOPATHY, DILATED, 1D; CMD1D Is also known as left ventricular noncompaction 6, included|lvnc6, included

Related symptoms:

  • Ventriculomegaly
  • Cardiomyopathy
  • Congestive heart failure
  • Dilatation
  • Dyspnea


SOURCES: OMIM MESH MENDELIAN

More info about CARDIOMYOPATHY, DILATED, 1D; CMD1D

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

Symptoms // Phenotype % cases
Cardiomyopathy Common - Between 50% and 80% cases
Dystonia Uncommon - Between 30% and 50% cases
Hyperreflexia Uncommon - Between 30% and 50% cases
Babinski sign Uncommon - Between 30% and 50% cases
Muscle weakness Uncommon - Between 30% and 50% cases

Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases

Dilated cardiomyopathy Neuronal loss in central nervous system Involuntary movements Orofacial dyskinesia Cerebral atrophy Areflexia Abnormality of movement Dysphagia Anxiety Myopathy Seizures Dysarthria Tremor Global developmental delay Anemia Peripheral neuropathy Mental deterioration Left ventricular hypertrophy Motor delay Generalized hypotonia

Rare Symptoms - Less than 30% cases

Fatigue Gait disturbance Respiratory distress Skeletal muscle atrophy Splenomegaly Hyporeflexia Respiratory failure Spasticity Hypertrophic cardiomyopathy Cognitive impairment Pallor Rigidity Right ventricular dilatation Hypokinesia Akinesia Gliosis Cardiac arrest Atrial fibrillation Parkinsonism Dyspnea Abnormal pyramidal sign Dementia Arrhythmia Depressivity Behavioral abnormality Hepatomegaly Optic disc pallor Hemolytic anemia Limb muscle weakness Muscular hypotonia Left bundle branch block Ventricular extrasystoles Cerebellar atrophy Right ventricular cardiomyopathy Ventricular tachycardia Resting tremor Syncope Chorea Ataxia Muscular hypotonia of the trunk Nystagmus Failure to thrive Myoclonus Blindness Feeding difficulties Hypertonia Intellectual disability Abnormal EKG Psychosis Incoordination Febrile seizures Cyanosis Adrenal insufficiency Pigmentary retinopathy Oral-pharyngeal dysphagia Congenital diaphragmatic hernia Cardiomegaly Coarctation of aorta Wide anterior fontanel Ventricular hypertrophy Horizontal nystagmus Ragged-red muscle fibers Leukoencephalopathy Shock Leukodystrophy Pancreatitis Migraine Exercise intolerance Aspiration Increased serum lactate Cone/cone-rod dystrophy Premature birth Retinopathy Agenesis of corpus callosum Acidosis Kyphoscoliosis Hypoglycemia Proximal muscle weakness Myalgia Abnormality of the eye Apnea Feeding difficulties in infancy Developmental regression Irritability Abnormality of the liver Stroke Brain atrophy Severe global developmental delay Lethargy Abnormality of eye movement Talipes Stage 5 chronic kidney disease Lactic acidosis Hepatic failure Hepatic steatosis Metabolic acidosis Coma Progressive cerebellar ataxia Generalized myoclonic seizures Palpitations Abnormal cerebellum morphology Optic neuropathy Global brain atrophy Chest pain Exercise-induced lactic acidemia Ventricular septal defect Truncus arteriosus Tachycardia Atrioventricular block Bundle branch block Right bundle branch block Sudden cardiac death Reduced ejection fraction Abnormal echocardiogram Abnormal T-wave Pain Abnormal mitochondria in muscle tissue Postural instability Hypotension Bradykinesia Abnormal autonomic nervous system physiology Urinary urgency Orthostatic hypotension Lewy bodies Hypomimic face Parkinsonism with favorable response to dopaminergic medication Ventriculomegaly Dilatation Acute necrotizing encephalopathy Congenital lactic acidosis Pericardial effusion Increased CSF lactate Progressive spasticity Poor eye contact Weak cry Basal ganglia calcification Renal tubular acidosis Patent ductus arteriosus Progressive encephalopathy Mitochondrial myopathy Cardiorespiratory arrest Aspiration pneumonia Nemaline bodies Wolff-Parkinson-White syndrome Necrotizing encephalopathy Corpus callosum atrophy Severe lactic acidosis Cerebral edema Acute pancreatitis Stiff neck Decreased activity of mitochondrial respiratory chain Axial dystonia Biventricular hypertrophy Infantile encephalopathy Macrovesicular hepatic steatosis Cardiogenic shock Progressive macrocephaly Pneumonia Macrocephaly Encephalopathy Central nervous system degeneration Cholelithiasis Macrocytic anemia Abnormality of immune system physiology Diaphragmatic paralysis Normocytic anemia Cholecystitis Nonspherocytic hemolytic anemia Normochromic anemia Abnormal posturing Chronic hemolytic anemia Congenital hemolytic anemia Short stature Respiratory insufficiency due to muscle weakness Choreoathetosis Difficulty walking Elevated serum creatine phosphokinase Hyperhidrosis Hepatosplenomegaly Presyncope Elevated hepatic transaminase Abnormality of the cerebral white matter Lower limb muscle weakness Confusion Paresthesia Decreased nerve conduction velocity Progressive muscle weakness Prolonged QRS complex Visual loss Ophthalmoparesis Restless legs Hemeralopia Abnormal fundus morphology Macular degeneration Sensory impairment Dysmetria Ophthalmoplegia Neonatal hypotonia Photophobia Reduced visual acuity Kyphosis Intention tremor Recurrent infections Recurrent respiratory infections Jaundice Respiratory tract infection Facial myokymia Paroxysmal dyskinesia Myokymia Unsteady gait Limb hypertonia Delayed gross motor development Oligohydramnios Sensory neuropathy Memory impairment Hernia Sensorineural hearing impairment 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 Growth delay Micrognathia Strabismus Abnormal facial shape Abnormal social behavior Ptosis Visual impairment Intrauterine growth retardation Dysdiadochokinesis Optic atrophy Talipes equinovarus Respiratory insufficiency Edema Atrial septal defect Vomiting Renal insufficiency Abnormal lactate dehydrogenase activity Impaired temperature sensation Generalized-onset seizure Impaired vibration sensation in the lower limbs Hallucinations Sensorimotor neuropathy Sleep apnea Ventricular arrhythmia Obsessive-compulsive behavior Personality changes Emotional lability Ventricular fibrillation Sensory axonal neuropathy Bowel incontinence Rhabdomyolysis Impaired pain sensation Generalized limb muscle atrophy Restlessness Insomnia Bipolar affective disorder Motor axonal neuropathy Supraventricular tachycardia Acanthocytosis Tics Excessive salivation Hyporeflexia of lower limbs Increased muscle fatiguability Personality disorder Left ventricular noncompaction


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