Congestive heart failure, and Myoclonus

Diseases related with Congestive heart failure and Myoclonus

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


Top matches:

Low 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

Low match AUTOSOMAL DOMINANT HYPOCALCEMIA


Autosomal dominant hypocalcemia (AD hypocalcemia) is a disorder of calcium homeostasis characterized by variable degrees of hypocalcemia with abnormally low levels of parathyroid hormone (PTH) and persistant normal or elevated calciuria.

AUTOSOMAL DOMINANT HYPOCALCEMIA Is also known as ad hypocalcemia|hypocalcemia, familial|hypercalciuric hypocalcemia

Related symptoms:

  • Seizures
  • Short stature
  • Optic atrophy
  • Fatigue
  • Congestive heart failure


SOURCES: ORPHANET OMIM MENDELIAN

More info about AUTOSOMAL DOMINANT HYPOCALCEMIA

Low match ISOLATED SUCCINATE-COQ REDUCTASE DEFICIENCY


Mitochondrial complex II deficiency is an autosomal recessive disorder with a highly variable phenotype. Some patients have multisystem involvement of the brain, heart, muscle, liver, and kidneys resulting in death in infancy, whereas others have only isolated cardiac or muscle involvement with onset in adulthood and normal cognition. Measurement of complex II activity in muscle is the most reliable means of diagnosis; however, there is no clear correlation between residual complex II activity and severity or clinical outcome. In some cases, treatment with riboflavin may have clinical benefit (summary by Jain-Ghai et al., 2013).

ISOLATED SUCCINATE-COQ REDUCTASE DEFICIENCY Is also known as isolated succinate-ubiquinone reductase deficiency|isolated succinate-coenzyme q reductase deficiency|isolated mitochondrial respiratory chain complex ii deficiency|succinate coq reductase deficiency

Related symptoms:

  • Seizures
  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Microcephaly


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about ISOLATED SUCCINATE-COQ REDUCTASE DEFICIENCY

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Other less relevant matches:

Low match MERRF


MERRF (Myoclonic Epilepsy with Ragged Red Fibers) syndrome is a mitochondrial encephalomyopathy characterized by myoclonic seizures.

MERRF Is also known as fukuhara syndrome|myoclonus epilepsy associated with ragged-red fibres|merrf syndrome

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Hearing impairment


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about MERRF

Low match KEARNS-SAYRE SYNDROME


Kearns-Sayre syndrome (KSS) is a mitochondrial disease characterized by progressive external ophthalmoplegia (PEO), pigmentary retinitis and an onset before the age of 20 years. Common additional features include deafness, cerebellar ataxia and heart block.

KEARNS-SAYRE SYNDROME Is also known as ophthalmoplegia, pigmentary degeneration of retina, and cardiomyopathy|cpeo with myopathy|oculocraniosomatic syndrome|ophthalmoplegia, progressive external, with ragged-red fibers|cpeo with ragged-red fibers|chronic progressive external ophthalmoplegia wi

Related symptoms:

  • Seizures
  • Short stature
  • Generalized hypotonia
  • Hearing impairment
  • Microcephaly


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about KEARNS-SAYRE SYNDROME

Low match GAUCHER DISEASE TYPE 1


Gaucher disease type 1 is the chronic non-neurological form of Gaucher disease (GD; see this term) characterized by organomegaly, bone involvement and cytopenia.

GAUCHER DISEASE TYPE 1 Is also known as gaucher disease, juvenile and adult, cerebral|gd iii|gaucher disease, chronic neuronopathic type|non-cerebral juvenile gaucher disease|gaucher disease, subacute neuronopathic type

Related symptoms:

  • Seizures
  • Global developmental delay
  • Short stature
  • Scoliosis
  • Ataxia


SOURCES: ORPHANET OMIM MENDELIAN

More info about GAUCHER DISEASE TYPE 1

Low 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

Low 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 GAUCHER DISEASE TYPE 2


Gaucher disease type 2 is the acute neurological form of Gaucher disease (GD; see this term). It is characterized by early-onset and severe neurological involvement of the brainstem, associated with an organomegaly and generally leading to death before the age of 2.

GAUCHER DISEASE TYPE 2 Is also known as infantile cerebral gaucher disease|acute neuronopathic gaucher disease

Related symptoms:

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Microcephaly
  • Scoliosis


SOURCES: ORPHANET MENDELIAN

More info about GAUCHER DISEASE TYPE 2

Low 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

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

Symptoms // Phenotype % cases
Seizures Very Common - Between 80% and 100% cases
Arrhythmia Common - Between 50% and 80% cases
Ataxia Common - Between 50% and 80% cases
Fatigue Common - Between 50% and 80% cases
Generalized myoclonic seizures Common - Between 50% and 80% cases
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Other less frequent symptoms

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

Common Symptoms - More than 50% cases


Dementia

Uncommon Symptoms - Between 30% and 50% cases


Global developmental delay

Common Symptoms - More than 50% cases


Short stature

Uncommon Symptoms - Between 30% and 50% cases


Ophthalmoplegia

Common Symptoms - More than 50% cases


Failure to thrive

Uncommon Symptoms - Between 30% and 50% cases


Depressivity

Common Symptoms - More than 50% cases


Optic atrophy

Uncommon Symptoms - Between 30% and 50% cases


Dysphagia

Common Symptoms - More than 50% cases


Dystonia

Uncommon Symptoms - Between 30% and 50% cases


Cardiomyopathy Nystagmus Muscle weakness Lactic acidosis Generalized hypotonia Motor delay Acidosis Delayed skeletal maturation Abdominal pain Ragged-red muscle fibers Encephalopathy Hypertonia Anemia Hepatomegaly Growth delay Diarrhea Vomiting Myopathy Developmental regression Dyspnea Cognitive impairment Pulmonary arterial hypertension Ptosis Spasticity Intellectual disability Blindness Spontaneous hematomas Hypertrophic cardiomyopathy Hearing impairment Increased serum lactate Decreased body weight Strabismus Kyphosis Abnormality of eye movement Mitochondrial myopathy Cyanosis Left ventricular hypertrophy Mental deterioration Pigmentary retinopathy Edema Skeletal muscle atrophy Peripheral neuropathy Muscular hypotonia Sensorineural hearing impairment External ophthalmoplegia Exercise intolerance Microcephaly Syncope Tremor Dilated cardiomyopathy EMG abnormality Basal ganglia calcification Hyperreflexia Anxiety Leukopenia Gait imbalance Stroke-like episode Hypogonadism Pericardial effusion Elevated serum creatine phosphokinase Osteopenia Petechiae Respiratory insufficiency Menorrhagia Osteoporosis Recurrent respiratory infections Wolff-Parkinson-White syndrome Splenomegaly Cholelithiasis Portal hypertension Abnormality of the thorax Clubbing Thrombocytopenia EEG abnormality Abnormality of the liver Epistaxis Cirrhosis Progressive external ophthalmoplegia Ascites Abnormal bleeding Delayed puberty Ophthalmoparesis Abnormality of mitochondrial metabolism Corneal opacity Pancytopenia Progressive neurologic deterioration Interstitial pulmonary abnormality Proteinuria Hepatosplenomegaly Anorexia Bone pain Migraine Increased CSF lactate Osteolysis Hepatic failure Oculomotor apraxia Generalized tonic-clonic seizures Neurological speech impairment Exertional dyspnea Abnormality of movement Bilateral ptosis Generalized osteosclerosis Scoliosis Orthopnea Adrenal insufficiency Erlenmeyer flask deformity of the femurs Decreased beta-glucocerebrosidase protein and activity Pallor Feeding difficulties in infancy Abnormality of the spleen Visual impairment Hematological neoplasm Apnea Hypoparathyroidism Hypomagnesemia Ventricular hypertrophy Respiratory distress Cardiac valve calcification Hyporeflexia Lethargy Retinopathy Muscle cramps Hepatocellular carcinoma Leukoencephalopathy Supranuclear gaze palsy Multiple myeloma Lymphadenopathy Cardiac arrest Avascular necrosis of the capital femoral epiphysis

Rare Symptoms - Less than 30% cases


Primary adrenal insufficiency Cerebral calcification Cardiomegaly Purpura Renal Fanconi syndrome Abnormality of retinal pigmentation Reduced tendon reflexes Atrioventricular block Incoordination Bundle branch block Muscle fiber atrophy Abnormality of the eye Anterior hypopituitarism Hyponatremia Heart block Myopia Renal tubular acidosis Nausea Hemiplegia/hemiparesis Severe lactic acidosis Feeding difficulties Hematuria Stroke Increased serum ferritin Memory impairment Pancreatitis Aspiration Brain atrophy Progressive cerebellar ataxia Abnormal cerebellum morphology Coma Abnormal pyramidal sign Cardiorespiratory arrest Irritability Myalgia Hypoglycemia Areflexia Renal insufficiency Cerebellar atrophy Intrauterine growth retardation Horizontal supranuclear gaze palsy Poor eye contact Aspiration pneumonia Abdominal distention Bulbar palsy Jaundice Abnormality of the cardiovascular system Gastroesophageal reflux Fever Restrictive deficit on pulmonary function testing Increased bone mineral density Slow saccadic eye movements Abnormal facial shape Opisthotonus Protuberant abdomen Hydrops fetalis Malabsorption Rigidity Gait disturbance Axial dystonia Increased susceptibility to fractures Increased antibody level in blood Abnormality of coagulation Aseptic necrosis Vertebral compression fractures Abnormal myocardium morphology Hyperkinesis Oral-pharyngeal dysphagia Limb hypertonia Proximal muscle weakness Reduced consciousness/confusion Leukodystrophy Decreased activity of mitochondrial respiratory chain Hypercalciuria Reduced bone mineral density Easy fatigability Rhabdomyolysis Vertigo Behavioral abnormality Hyperthyroidism Hypocalcemia Multiple lipomas Paresthesia Abnormal mitochondria in muscle tissue Status epilepticus Hepatic steatosis Generalized-onset seizure Dysarthria Sensory neuropathy Dyskinesia Muscular hypotonia of the trunk Difficulty walking Hypothyroidism Rod-cone dystrophy Cerebellar hypoplasia Pain Flexion contracture Babinski sign Respiratory failure Diabetes mellitus Abnormal pattern of respiration Involuntary movements Limb muscle weakness Writer's cramp Delayed gross motor development Nyctalopia Weight loss Gait ataxia Erythema Autism Protruding ear Attention deficit hyperactivity disorder Cerebral cortical atrophy Nephrotic syndrome Photophobia Type II diabetes mellitus Pruritus Abnormality of the pinna Anal atresia Arthrogryposis multiplex congenita Hirsutism Hip dysplasia Sensory impairment Sudden cardiac death Specific learning disability Postural instability Polyneuropathy Nephropathy Constipation Congenital cataract Peripheral axonal neuropathy Ichthyosis Confusion Amenorrhea Dysmetria Bilateral sensorineural hearing impairment Nausea and vomiting Carious teeth Polymicrogyria Growth hormone deficiency Visual loss Poor suck Fetal akinesia sequence Epileptic spasms Atrophy/Degeneration affecting the brainstem Congenital ichthyosiform erythroderma Hypokinesia Athetosis Heart murmur Akinesia Ectropion Intracranial hemorrhage Hyperammonemia Trismus Hyperbilirubinemia Knee flexion contracture Elbow flexion contracture Progressive microcephaly Thickened skin Cholestasis Decreased fetal movement Abnormality of the skin Pulmonary hypoplasia Cough Bulbar signs Nonimmune hydrops fetalis Cerebral atrophy Abnormal platelet aggregation Headache Abnormality of the dentition Short neck Ventriculomegaly Hypertension Cataract Atrial fibrillation Hypertelorism EEG with temporal sharp waves Slowed horizontal saccades CSF pleocytosis Congenital nonbullous ichthyosiform erythroderma Laryngeal stridor Giant cell hepatitis Intestinal bleeding Subcutaneous hemorrhage Abducens palsy Hemophagocytosis Eclabion Histiocytosis Hypoxemia Abnormality of the larynx Psychosis Type I diabetes mellitus Hemiparesis Ileus Gastroparesis Leber optic atrophy Persistence of primary teeth Psychomotor deterioration Dysesthesia Motor polyneuropathy Episodic vomiting Abnormality of the renal tubule Hemianopia Proximal tubulopathy Auditory hallucinations Abnormality of peripheral nerve conduction Retinal pigment epithelial atrophy Speech apraxia Left ventricular failure Seborrheic dermatitis Cerebral ischemia Visual hallucinations Tubulointerstitial nephritis Renal tubular dysfunction Aortic dissection Amaurosis fugax Abnormal nerve conduction velocity Delusions Cochlear degeneration 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 Paralytic ileus Abnormal mitochondrial shape Progressive night blindness Tubulointerstitial abnormality Cochlear malformation Edema of the dorsum of hands Abnormal mitochondrial morphology Paronychia Spotty hypopigmentation Abnormal macular morphology Hemeralopia Crohn's disease Abnormality of the cerebellar vermis Psychotic episodes Facial diplegia Transient ischemic attack Hypertrichosis Schizophrenia Intestinal obstruction Personality changes Aortic aneurysm Hemiplegia Decreased nerve conduction velocity Cachexia Chronic kidney disease Growth abnormality Goiter Mutism Bifid scrotum Hypopigmented skin patches Ischemic stroke Macular degeneration Hypogonadotrophic hypogonadism Generalized hirsutism Truncal ataxia Clonus Cerebral visual impairment Hallucinations Gingival overgrowth Aplasia/Hypoplasia of the cerebellum Mask-like facies Posterior subcapsular cataract Thyroiditis Xerostomia Vitiligo Neonatal hypoglycemia Abnormality of visual evoked potentials Hashimoto thyroiditis Atopic dermatitis Drowsiness Distal arthrogryposis Pulmonary embolism Abnormality of immune system physiology Glomerulopathy Focal segmental glomerulosclerosis Progressive sensorineural hearing impairment Vertebral fusion Prolonged QT interval Visual field defect Hyperkalemia Dysphasia Vestibular dysfunction Aphasia Overlapping toe Abnormality of neuronal migration Elevated hepatic transaminase Resting tremor Umbilical hernia Spastic paraparesis Osteomyelitis Increased intramyocellular lipid droplets Leukocytosis Progressive leukoencephalopathy Decreased activity of mitochondrial complex II Left ventricular systolic dysfunction Stress/infection-induced lactic acidosis Hypoplasia of the corpus callosum Abnormality of the cerebral white matter Meningitis Paraganglioma Hepatic fibrosis Hepatitis Osteoarthritis Palpitations Ventricular tachycardia EMG: myopathic abnormalities Apraxia Sensory axonal neuropathy Parkinsonism Hemolytic-uremic syndrome Left ventricular noncompaction Mildly elevated creatine phosphokinase Tetraplegia Arthralgia of the hip Flank pain Abnormality of bone marrow cell morphology Neonatal hypotonia Fractures of the long bones Hypersplenism Esodeviation Periorbital edema Respiratory tract infection Generalized muscle weakness Ketonuria Spastic tetraplegia Mitral regurgitation Edema of the lower limbs Congenital hip dislocation Bipolar affective disorder Gingival bleeding Ketosis Pathologic fracture Preeclampsia Right bundle branch block Muscle fibrillation Vascular calcification Hyperaldosteronism Folate deficiency EEG with irregular generalized spike and wave complexes First degree atrioventricular block Sideroblastic anemia Abnormality of thalamus morphology Titubation Abnormality of the mitochondrion Weakness of facial musculature Lacticaciduria Global systolic dysfunction Third degree atrioventricular block Increased CSF protein Exocrine pancreatic insufficiency Basal ganglia necrosis Severe short stature Nasal speech Reduced visual acuity Ventricular arrhythmia Paralysis Muscular dystrophy Adrenocorticotropin deficient adrenal insufficiency Second degree atrioventricular block Bruising susceptibility Right ventricular cardiomyopathy Abnormality of skin pigmentation Lipoma Ventricular extrasystoles Motor axonal neuropathy Intrahepatic cholestasis Diffuse cerebral atrophy Abnormality of the endocrine system Arthritis Supraventricular tachycardia Portal fibrosis Progressive intervertebral space narrowing Abnormal echocardiogram Increased serum pyruvate Abnormality of brainstem morphology Sinus tachycardia Cytochrome C oxidase-negative muscle fibers Diffuse cerebellar atrophy Fatty replacement of skeletal muscle EEG with photoparoxysmal response Low CSF 5-methyltetrahydrofolate Abnormal platelet function Biliary tract obstruction Chorea Progressive macrocephaly Orofacial dyskinesia Aggressive behavior Paroxysmal dyskinesia Hydrocephalus Facial myokymia Exercise-induced lactic acidemia Acute necrotizing encephalopathy Congenital lactic acidosis Necrotizing encephalopathy Cardiogenic shock Intention tremor Macrovesicular hepatic steatosis Infantile encephalopathy Biventricular hypertrophy Stiff neck Acute pancreatitis Cerebral edema Corpus callosum atrophy Nemaline bodies Alopecia Neurodegeneration Myokymia Optic neuropathy Astrocytosis Polyhydramnios Choreoathetosis Sleep myoclonus Abnormality of the acoustic reflex Abnormality of ion homeostasis Mitral valve calcification Abnormal saccadic eye movements Aortic valve calcification Abnormal thrombosis Protein-losing enteropathy Lymphopenia Hypercoagulability Thoracic kyphosis Abnormal heart valve morphology Abnormality of the sternum Lower limb hyperreflexia Abnormal retinal morphology Restrictive ventilatory defect Pulmonary fibrosis Hypoalbuminemia Progressive encephalopathy Weak cry Puberty and gonadal disorders Abnormal renal physiology Fatigable weakness Irregular hyperpigmentation Hyperphosphatemia Kyphoscoliosis Agenesis of corpus callosum Pneumonia Tetany Patent ductus arteriosus Hernia Atrial septal defect Hypokalemia Increased circulating renin level Talipes equinovarus Macrocephaly Hypocalcemic seizures Cortical myoclonus Micrognathia Laryngospasm Hypermagnesiuria Absent speech Emotional lability Severe global developmental delay Dry skin Congenital diaphragmatic hernia Progressive spasticity Global brain atrophy Shock Hypotension Horizontal nystagmus Eczema Nephrolithiasis Wide anterior fontanel Coarctation of aorta Optic disc pallor Increased intracranial pressure Febrile seizures Premature birth Abnormality of the nail Gliosis Nephrocalcinosis Abnormality of the fingernails Metabolic acidosis Stage 5 chronic kidney disease Talipes Prominent ear helix



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