Congestive heart failure, and Paralysis

Diseases related with Congestive heart failure and Paralysis

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

Top matches:

Congenital long QT syndrome is electrocardiographically characterized by a prolonged QT interval and polymorphic ventricular arrhythmias (torsade de pointes). These cardiac arrhythmias may result in recurrent syncope, seizure, or sudden death (Jongbloed et al., 1999).For a discussion of genetic heterogeneity of long QT syndrome, see LQT1 (OMIM ).

Related symptoms:

  • Seizures
  • Hypertension
  • Congestive heart failure
  • Arrhythmia
  • Paralysis


SOURCES: OMIM MENDELIAN

More info about LONG QT SYNDROME 13; LQT13

Infantile hypertrophic cardiomyopathy due to MRPL44 deficiency is a rare mitochondrial oxidative phosphorylation disorder with complex I and IV deficiency characterized by hypertrophic cardiomyopathy, hepatic steatosis with elevated liver transaminases, exercise intolerance and muscle weakness. Neuro-opthalmological features (hemiplegic migraine, Leigh-like lesions on brain MRI, pigmentary retinopathy) have been reported later in life.

INFANTILE HYPERTROPHIC CARDIOMYOPATHY DUE TO MRPL44 DEFICIENCY Is also known as combined oxidative phosphorylation defect type 16|coxpd16

Related symptoms:

  • Cardiomyopathy
  • Congestive heart failure
  • Headache
  • Elevated hepatic transaminase
  • Hypertrophic cardiomyopathy


SOURCES: ORPHANET OMIM MENDELIAN

More info about INFANTILE HYPERTROPHIC CARDIOMYOPATHY DUE TO MRPL44 DEFICIENCY

Hypokalemic periodic paralysis (hypoPP) is characterised by episodes of muscle paralysis lasting from a few to 24-48 hours and associated with a fall in blood potassium levels.

HYPOKALEMIC PERIODIC PARALYSIS Is also known as westphall disease

Related symptoms:

  • Paralysis
  • EMG abnormality
  • Myotonia
  • Mildly elevated creatine phosphokinase
  • Adrenocortical adenoma


SOURCES: ORPHANET MENDELIAN

More info about HYPOKALEMIC PERIODIC PARALYSIS

Other less relevant matches:

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

Cerebral cavernous angiomas are relatively rare vascular malformations that may involve any part of the central nervous system. Cerebral cavernous angiomas are to be distinguished from cerebral arteriovenous malformations ({106070}, {108010}). CCMs are venous and not demonstrable by arteriography; hence they are referred to as angiographically silent.Capillary hemangiomas (OMIM ) are classified as distinct from vascular malformations in that hemangiomas are benign, highly proliferative lesions involving aberrant localized growth of capillary endothelium. Hemangiomas develop shortly after birth. In contrast, vascular malformations are present from birth, tend to grow with the individual, do not regress, and show normal rates of endothelial cell turnover (Mulliken and Young, 1988). Genetic Heterogeneity of CCMCCM2 (OMIM ) is caused by mutation in the CCM2/malcavernin gene (OMIM ), and CCM3 (OMIM ) is caused by mutation in the PDCD10 gene (OMIM ).Evidence suggests that a 2-hit mechanism involving biallelic germline and somatic mutations is responsible for CCM1 pathogenesis, see PATHOGENESIS and MOLECULAR GENETICS sections.

CEREBRAL CAVERNOUS MALFORMATIONS; CCM Is also known as cam|cerebral capillary malformations|cavernous angiomatous malformations|cavernous angioma, familial

Related symptoms:

  • Seizures
  • Muscle weakness
  • Hepatomegaly
  • Congestive heart failure
  • Headache


SOURCES: ORPHANET OMIM MENDELIAN

More info about CEREBRAL CAVERNOUS MALFORMATIONS; CCM

Thyrotoxic periodic paralysis (TPP) is a rare neurological disease characterized by recurrent episodes of paralysis and hypokalemia during a thyrotoxic state.

THYROTOXIC PERIODIC PARALYSIS Is also known as thyrotoxic hypokalemic periodic paralysis

Related symptoms:

  • Muscle weakness
  • Hypertension
  • Hyperreflexia
  • Tremor
  • Obesity


SOURCES: OMIM ORPHANET MENDELIAN

More info about THYROTOXIC PERIODIC PARALYSIS

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

A rare adenoma of the anterior lobe of the pituitary gland that produces thyrotropin. It is usually associated with goiter and hyperthyroidism.

TSH-SECRETING PITUITARY ADENOMA Is also known as thyrotroph adenoma|pituitary thyrotrophic adenoma|thyroid stimulating hormone-secreting pituitary adenoma|tsh-oma

Related symptoms:

  • Seizures
  • Ptosis
  • Hypertension
  • Tremor
  • Fatigue


SOURCES: ORPHANET MENDELIAN

More info about TSH-SECRETING PITUITARY ADENOMA

Tetralogy of Fallot is a congenital cardiac malformation that consists of an interventricular communication, also known as a ventricular septal defect, obstruction of the right ventricular outflow tract, override of the ventricular septum by the aortic root, and right ventricular hypertrophy.

Related symptoms:

  • Growth delay
  • Muscle weakness
  • Cryptorchidism
  • Anemia
  • Brachydactyly


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about TETRALOGY OF FALLOT

Hereditary paraganglioma-pheochromocytomas (PGL/PCC) are rare neuroendocrine tumors represented by paragangliomas (occurring in any paraganglia from the skull base to the pelvic floor) and pheochromocytomas (adrenal medullary paragangliomas; see this term).

HEREDITARY PHEOCHROMOCYTOMA-PARAGANGLIOMA Is also known as familial pheochromocytoma-paraganglioma

Related symptoms:

  • Tremor
  • Fatigue
  • Congestive heart failure
  • Weight loss
  • Conductive hearing impairment


SOURCES: ORPHANET MENDELIAN

More info about HEREDITARY PHEOCHROMOCYTOMA-PARAGANGLIOMA

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

Symptoms // Phenotype % cases
Seizures Uncommon - Between 30% and 50% cases
Tremor Uncommon - Between 30% and 50% cases
Muscle weakness Uncommon - Between 30% and 50% cases
Palpitations Uncommon - Between 30% and 50% cases
Myotonia Uncommon - Between 30% and 50% cases

Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases

EMG abnormality Episodic flaccid weakness Weight loss Respiratory tract infection Headache Periodic hypokalemic paresis Hypertension Hypokalemia Arrhythmia Pallor Fatigue

Rare Symptoms - Less than 30% cases

Hyperreflexia Late-onset proximal muscle weakness Exercise-induced muscle fatigue Recurrent respiratory infections Respiratory distress Respiratory paralysis Episodic hypokalemia Anemia Hyperkalemia Skeletal muscle atrophy Gait disturbance Myopathy Ophthalmoparesis Cerebral hemorrhage Chest pain Increased intramyocellular lipid droplets Impaired myocardial contractility Lower limb muscle weakness Prolonged QT interval Easy fatigability Goiter Postprandial hyperglycemia Ventricular arrhythmia Cardiomyopathy Hyperthyroidism Hypertrophic cardiomyopathy Proptosis Tachycardia Hyperhidrosis Hyporeflexia Mildly elevated creatine phosphokinase Abnormality of muscle fibers Dyspnea Clinodactyly of the 5th finger Fourth cranial nerve palsy Abnormal heart morphology Enlarged pituitary gland Patent ductus arteriosus Cranial nerve VI palsy Internal ophthalmoplegia Abnormal visual field test Clinodactyly Heteronymous hemianopia Thyroid crisis Growth delay Abnormality of cardiovascular system morphology Cryptorchidism Brachydactyly Ventricular septal defect Intrauterine growth retardation Abnormality of hair density Sudden loss of visual acuity Euthyroid hyperthyroxinemia Menstrual irregularities Vertigo Hypotension Progressive visual loss Diplopia Gynecomastia Hypogonadotrophic hypogonadism Cranial nerve paralysis Impotence Pericardial effusion Growth hormone excess Increased circulating gonadotropin level Prolactin excess Male hypogonadism Adrenocorticotropic hormone deficiency Hemianopia Abnormality of the pituitary gland Increased thyroid-stimulating hormone level Erectile abnormalities Bitemporal hemianopia Decreased fertility in males Adrenocorticotropin deficient adrenal insufficiency Female hypogonadism Central adrenal insufficiency Decreased circulating ACTH level Supraventricular arrhythmia Broad forehead Decreased female libido Decreased fertility in females Secondary growth hormone deficiency Oculomotor nerve palsy Abnormality of the menstrual cycle Abnormal cardiac septum morphology Polycythemia Dolichocephaly Adrenal pheochromocytoma Hypercalcemia Glomerulosclerosis Renal cell carcinoma Aniridia Episodic abdominal pain Vocal cord paralysis Flushing Paraganglioma Sinus tachycardia Cranial nerve compression Recurrent paroxysmal headache Elevated calcitonin Pulsatile tinnitus Hematuria Episodic paroxysmal anxiety Hypertensive retinopathy Panic attack Hypertension associated with pheochromocytoma Episodic hyperhidrosis Extraadrenal pheochromocytoma Retinal capillary hemangioma Elevated urinary epinephrine Paraganglioma of head and neck Elevated urinary dopamine Elevated urinary norepinephrine Positive regitine blocking test Paroxysmal vertigo Dysphonia Nausea Pulmonic stenosis Hyperventilation Thin vermilion border Cyanosis Tetralogy of Fallot Ventricular hypertrophy Hemiparesis Sinusitis Increased body weight Clubbing Heart murmur Preauricular pit Delayed puberty Underdeveloped supraorbital ridges Poor appetite Double outlet right ventricle Proteinuria Truncus arteriosus Right ventricular hypertrophy Pulmonary artery atresia Breathing dysregulation Interrupted aortic arch Right ventricular failure Abnormal nasal morphology Endocarditis Overriding aorta Pulmonary valve atresia Tetralogy of Fallot with absent pulmonary valve Absence of the pulmonary valve Conductive hearing impairment Infertility Oligohydramnios Nausea and vomiting Abnormality of the musculature Bowel incontinence Malignant hyperthermia Periodic hyperkalemic paralysis Hepatomegaly Stroke Migraine Abnormality of the skin Focal-onset seizure Cerebral calcification Telangiectasia Hemangioma Intracranial hemorrhage Capillary hemangioma Hyponatremia Cavernous hemangioma Neuritis Venous malformation Varicocele Retrobulbar optic neuritis Retinal vascular malformation Hepatic vascular malformations Obesity Constipation Muscle cramps Tetraplegia Muscle stiffness Skeletal muscle hypertrophy Cerebral palsy Rhabdomyolysis Cardiomegaly Postural instability Syncope Atrial fibrillation Cardiac arrest Atrioventricular block Coronary artery atherosclerosis Pulmonary embolism Paroxysmal atrial fibrillation Torsade de pointes Elevated hepatic transaminase Hepatic steatosis Increased serum lactate Abnormality of mitochondrial metabolism Reduced tendon reflexes Microvesicular hepatic steatosis Decreased activity of mitochondrial respiratory chain Adrenocortical adenoma Fatigable weakness of respiratory muscles Flexion contracture Respiratory insufficiency Hypertonia Elevated serum creatine phosphokinase Myalgia Feeding difficulties in infancy Paresthesia Fasciculations Ventricular fibrillation Thyroiditis Osteopenia Diaphragmatic paralysis Hemolytic anemia Dyskinesia Neuronal loss in central nervous system Optic disc pallor Intention tremor Involuntary movements Progressive muscle weakness Respiratory insufficiency due to muscle weakness Decreased nerve conduction velocity Cholelithiasis Macrocytic anemia Abnormality of immune system physiology Normocytic anemia Limb muscle weakness Cholecystitis Nonspherocytic hemolytic anemia Normochromic anemia Abnormal posturing Chronic hemolytic anemia Congenital hemolytic anemia Central nervous system degeneration Ptosis Blindness Vomiting Osteoporosis Hypogonadism Unsteady gait Abnormal pyramidal sign Hashimoto thyroiditis Thyrotoxicosis with toxic multinodular goitre Hypomagnesemia Heat intolerance Graves disease Abnormality of peripheral nerve conduction Urinary retention Periodic paralysis Shortened PR interval Second degree atrioventricular block Thyrotoxicosis with diffuse goiter Decreased urinary potassium Transient hypophosphatemia Thyrotoxicosis with toxic single thyroid nodule Global developmental delay Jaundice Generalized hypotonia Muscular hypotonia Spasticity Motor delay Peripheral neuropathy Dystonia Splenomegaly Kyphosis Cerebral atrophy Recurrent infections Areflexia Babinski sign Respiratory failure Arachnoid hemangiomatosis


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