Congestive heart failure, and Peripheral axonal neuropathy

Diseases related with Congestive heart failure and Peripheral axonal neuropathy

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


Top matches:

Medium match ATTRV122I AMYLOIDOSIS


Transthyretin (TTR)-related familial amyloidotic cardiomyopathy is a hereditary TTR-related systemic amyloidosis (ATTR) with predominant cardiac involvement resulting from myocardial infiltration of abnormal amyloid protein.

ATTRV122I AMYLOIDOSIS Is also known as attr cardiomyopathy|attrv122i-related amyloidosis|transthyretin-related familial amyloid cardiomyopathy|transthyretin amyloid cardiopathy|ttr-related amyloid cardiomyopathy|ttr-related cardiac amyloidosis

Related symptoms:

  • Muscle weakness
  • Cardiomyopathy
  • Diarrhea
  • Congestive heart failure
  • Arrhythmia


SOURCES: ORPHANET MENDELIAN

More info about ATTRV122I AMYLOIDOSIS

Medium match SPINAL MUSCULAR ATROPHY WITH CONGENITAL BONE FRACTURES 1; SMABF1


Spinal muscular atrophy with congenital bone fractures is an autosomal recessive severe neuromuscular disorder characterized by onset of severe hypotonia in utero. This results in congenital contractures, consistent with arthrogryposis multiplex congenita, and increased incidence of prenatal fracture of the long bones. Affected infants have difficulty breathing and feeding and often die in the first months or years of life (summary by Knierim et al., 2016). Genetic Heterogeneity of Spinal Muscular Atrophy With Congenital Bone FracturesSee also SMABF2 (OMIM ), caused by mutation in the ASCC1 gene (OMIM ) on chromosome 10q22.

Related symptoms:

  • Global developmental delay
  • Generalized hypotonia
  • Hypertelorism
  • Muscle weakness
  • Flexion contracture


SOURCES: OMIM MENDELIAN

More info about SPINAL MUSCULAR ATROPHY WITH CONGENITAL BONE FRACTURES 1; SMABF1

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

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Other less relevant matches:

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 MITOCHONDRIAL TRIFUNCTIONAL PROTEIN DEFICIENCY; MTPD


The mitochondrial trifunctional protein, composed of 4 alpha and 4 beta subunits, catalyzes 3 steps in mitochondrial beta-oxidation of fatty acids: long-chain 3-hydroxyacyl-CoA dehydrogenase (LCHAD), long-chain enoyl-CoA hydratase, and long-chain thiolase activities. Trifunctional protein deficiency is characterized by decreased activity of all 3 enzymes. Clinically, classic trifunctional protein deficiency can be classified into 3 main clinical phenotypes: neonatal onset of a severe, lethal condition resulting in sudden unexplained infant death (SIDS ), infantile onset of a hepatic Reye-like syndrome, and late-adolescent onset of primarily a skeletal myopathy (Spiekerkoetter et al., 2003).Some patients with MTP deficiency show a protracted progressive course associated with myopathy, recurrent rhabdomyolysis, and sensorimotor axonal neuropathy. These patients tend to survive into adolescence and adulthood (den Boer et al., 2003).See also isolated LCHAD deficiency (OMIM ), which is caused by mutation in the HADHA gene.

MITOCHONDRIAL TRIFUNCTIONAL PROTEIN DEFICIENCY; MTPD Is also known as trifunctional protein deficiency

Related symptoms:

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Failure to thrive
  • Muscle weakness


SOURCES: OMIM MENDELIAN

More info about MITOCHONDRIAL TRIFUNCTIONAL PROTEIN DEFICIENCY; MTPD

Medium match INCLUSION BODY MYOPATHY WITH PAGET DISEASE OF BONE AND FRONTOTEMPORAL DEMENTIA


Inclusion body myopathy with Paget disease of bone and frontotemporal dementia (IBMPFD) is a multisystem degenerative genetic disorder characterized by adult-onset proximal and distal muscle weakness (clinically resembling limb-girdle muscular dystrophy; see this term); early-onset Paget disease of bone (see this term), manifesting with bone pain, deformity and enlargement of the long-bones; and premature frontotemporal dementia (see this term), manifesting first with dysnomia, dyscalculia and comprehension deficits followed by progressive aphasia, alexia, and agraphia. As the disease progresses, muscle weakness begins to affect the other limbs and respiratory muscles, ultimately resulting in respiratory or cardiac failure.

INCLUSION BODY MYOPATHY WITH PAGET DISEASE OF BONE AND FRONTOTEMPORAL DEMENTIA Is also known as pagetoid neuroskeletal syndrome|msp1|pagetoid amyotrophic lateral sclerosis|multisystem proteinopathy 1|muscular dystrophy, limb-girdle, with paget disease of bone|limb-girdle muscular dystrophy with paget disease of bone|ibmpfd|lower motor neuron degener

Related symptoms:

  • Intellectual disability
  • Short stature
  • Muscle weakness
  • Cataract
  • Skeletal muscle atrophy


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about INCLUSION BODY MYOPATHY WITH PAGET DISEASE OF BONE AND FRONTOTEMPORAL DEMENTIA

Medium match ATTRV30M AMYLOIDOSIS


Familial amyloid polyneuropathy (FAP) or transthyretin (TTR) amyloid polyneuropathy is a progressive sensorimotor and autonomic neuropathy of adulthood onset. Weight loss and cardiac involvement are frequent; ocular or renal complications may also occur.

ATTRV30M AMYLOIDOSIS Is also known as familial amyloid polyneuropathy type i|ttr amyloid neuropathy|attrv30m-related amyloidosis|hereditary amyloidosis, transthyretin-related|transthyretin amyloid polyneuropathy|familial amyloid polyneuropathy, portuguese-swedish-japanese type|fap|amyloid pol

Related symptoms:

  • Seizures
  • Hearing impairment
  • Ataxia
  • Nystagmus
  • Sensorineural hearing impairment


SOURCES: OMIM ORPHANET MENDELIAN

More info about ATTRV30M AMYLOIDOSIS

Medium match LONG CHAIN 3-HYDROXYACYL-COA DEHYDROGENASE DEFICIENCY


Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency (LCHADD) is a mitochondrial disorder of long chain fatty acid oxidation characterized in most patients by onset in infancy/ early childhood with hypoketotic hypoglycemia, metabolic acidosis, liver disease, hypotonia and frequently cardiac involvement with arrhythmias and/or cardiomyopathy.

LONG CHAIN 3-HYDROXYACYL-COA DEHYDROGENASE DEFICIENCY Is also known as lchad deficiency|long-chain 3-hydroxyacyl-coenzyme a dehydrogenase deficiency|lchadd

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about LONG CHAIN 3-HYDROXYACYL-COA DEHYDROGENASE DEFICIENCY

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

Medium 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

Top 5 symptoms//phenotypes associated to Congestive heart failure and Peripheral axonal neuropathy

Symptoms // Phenotype % cases
Muscle weakness Very Common - Between 80% and 100% cases
Cardiomyopathy Very Common - Between 80% and 100% cases
Peripheral neuropathy Common - Between 50% and 80% cases
Myopathy Uncommon - Between 30% and 50% cases
Sensory axonal neuropathy Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Elevated serum creatine phosphokinase Areflexia Seizures Arrhythmia Ataxia Sensory neuropathy Hepatic steatosis Dilated cardiomyopathy Dysphagia Skeletal muscle atrophy Peripheral demyelination Global developmental delay Dementia Dystonia Pain Dysarthria Cognitive impairment Neuronal loss in central nervous system Muscular hypotonia Babinski sign Hepatic failure Abnormality of the liver Rhabdomyolysis Hyporeflexia Sensory impairment Left ventricular hypertrophy Chorea Vomiting Tremor Sensorimotor neuropathy Polyneuropathy EMG: myopathic abnormalities Nystagmus Coma Distal muscle weakness Motor axonal neuropathy Atrial fibrillation Abnormal echocardiogram Depressivity Gait disturbance Generalized hypotonia Hypertrophic cardiomyopathy Elevated hepatic transaminase Intellectual disability Short stature Paresthesia Respiratory distress Hearing impairment Gait imbalance Spasticity Respiratory failure Abnormality of movement Urinary bladder sphincter dysfunction

Rare Symptoms - Less than 30% cases


Hepatomegaly Ventricular extrasystoles Cachexia Ventricular arrhythmia Behavioral abnormality Paraparesis Lower limb muscle weakness Dyspnea Cardiac arrest Hallucinations Involuntary movements Generalized-onset seizure Mental deterioration Abnormality of the cerebral white matter Sinus tachycardia Visual impairment Supraventricular tachycardia Limb muscle weakness Stroke-like episode Acute hepatic steatosis Cerebral cortical atrophy Facial palsy Fatigue Optic atrophy Brain atrophy Tachypnea Ptosis Aphasia Multiple lipomas Fatty replacement of skeletal muscle Visual loss Sensorineural hearing impairment Hypoketotic hypoglycemia Decreased liver function Failure to thrive Dilatation Migraine Feeding difficulties Ventriculomegaly Respiratory insufficiency Edema Diffuse cerebellar atrophy Acidosis Pigmentary retinopathy Difficulty walking Hypoglycemia Palpitations Retinopathy Lactic acidosis Metabolic acidosis Hypotension Renal insufficiency Spastic paraparesis Distal amyotrophy Increased variability in muscle fiber diameter Distal sensory impairment Orthostatic hypotension Spinal muscular atrophy Gait ataxia Pes cavus Slurred speech Generalized amyotrophy Scoliosis Cerebellar atrophy Neurodegeneration Cardiac amyloidosis Truncal ataxia Progressive cerebellar ataxia Limb ataxia Decreased motor nerve conduction velocity Impotence Exercise intolerance Impaired proprioception Diarrhea Constipation Abnormal pyramidal sign Abnormality of the foot Abnormal cardiac septum morphology Heart block Gastrointestinal inflammation Abnormal chorioretinal morphology Hepatic encephalopathy Abnormal left ventricle morphology EEG with photoparoxysmal response Posterior staphyloma Elevated plasma acylcarnitine levels Reye syndrome-like episodes Decreased plasma carnitine Reduced consciousness/confusion Decreased activity of 3-hydroxyacyl-CoA dehydrogenase Cholestatic liver disease Decreased activity of mitochondrial respiratory chain Abnormality of acid-base homeostasis Increased CSF lactate Unsteady gait Dysmetria Abnormality of the endocrine system Abnormality of eye movement Pallor Pes planus Kyphoscoliosis Reduced visual acuity Hyperactivity Diabetes mellitus 3-hydroxydicarboxylic aciduria Wolff-Parkinson-White syndrome Kyphosis Right ventricular cardiomyopathy Talipes equinovarus Portal fibrosis Increased serum pyruvate EEG with irregular generalized spike and wave complexes Abnormality of brainstem morphology Cytochrome C oxidase-negative muscle fibers Recurrent hypoglycemia Temporal optic disc pallor Preeclampsia Multiple myeloma Orthostatic hypotension due to autonomic dysfunction Psychomotor deterioration Urinary retention Sensory ataxia Abnormal renal physiology Myelopathy Global systolic dysfunction Constrictive median neuropathy Restrictive cardiomyopathy Amyloid deposition in the vitreous humor Increased CSF protein Syringomyelia Amyloidosis Decreased number of peripheral myelinated nerve fibers Axonal degeneration Malnutrition Cerebral hemorrhage Rheumatoid arthritis Atrioventricular block Vitreous floaters Hypertension Abnormality of thalamus morphology Hypopigmentation of the skin Chorioretinal atrophy Loss of consciousness Abnormal electroretinogram Hypocalcemia Tachycardia Abnormality of retinal pigmentation Exotropia Anorexia Retinal dystrophy Myopia Nausea Nyctalopia Weakness of facial musculature Photophobia Jaundice Abdominal pain Lacticaciduria Abnormality of metabolism/homeostasis Macrocephaly Vertigo Hyperthyroidism Falls Increased serum lactate Neurological speech impairment Generalized tonic-clonic seizures Decreased sensory nerve conduction velocity Reduced systolic function Hand muscle atrophy Abnormal saccadic eye movements Ophthalmoplegia Generalized myoclonic seizures Hepatitis EEG abnormality Pulmonary arterial hypertension Abnormality of cardiovascular system physiology Lower limb amyotrophy Poor fine motor coordination T-wave inversion Subvalvular aortic stenosis Asymmetric septal hypertrophy Spinocerebellar tract degeneration Developmental regression Diabetic ketoacidosis Areflexia of lower limbs Structural foot deformity Decreased pyruvate carboxylase activity Mitochondrial malic enzyme reduced Palmar hyperhidrosis Cervical spinal cord atrophy Muscular subvalvular aortic stenosis Spinal cord posterior columns myelin loss Decreased amplitude of sensory action potentials Abolished vibration sense Impaired visually enhanced vestibulo-ocular reflex Hypogonadism Hemifacial hypertrophy Atrophic superior cerebellar peduncle Abnormality of the autonomic nervous system Incomprehensible speech Hypoplasia of the corpus callosum Myoclonus Upper limb amyotrophy Cerebellar cortical atrophy Concentric hypertrophic cardiomyopathy Hyposmia Myocardial fibrosis Diffuse cerebral atrophy Right bundle branch block Delayed gross motor development Clumsiness Hyperkinesis Abnormality of mitochondrial metabolism Intention tremor Ophthalmoparesis Ventricular hypertrophy Optic disc pallor Mildly elevated creatine phosphokinase External ophthalmoplegia Muscle fibrillation Abnormality of the dentate nucleus Lipoma Chest pain Abnormal cerebellum morphology Mitochondrial myopathy Progressive external ophthalmoplegia Inability to walk Intrahepatic cholestasis Ragged-red muscle fibers Ventricular tachycardia Increased reactive oxygen species production Glucose intolerance Ketoacidosis Ketosis Abnormality of visual evoked potentials Abnormal EKG Thoracic scoliosis Optic neuropathy Hyperactive deep tendon reflexes Visual field defect Hammertoe EMG abnormality Impaired vibratory sensation Dysdiadochokinesis Incoordination Reduced tendon reflexes Muscle stiffness Insulin resistance Spastic gait Lower limb spasticity Status epilepticus Positive Romberg sign Osteolysis Abnormal autonomic nervous system physiology Anemia Confusion Anxiety Rigidity Hepatosplenomegaly Hyperhidrosis Cerebral atrophy Splenomegaly Hypertonia Impaired distal tactile sensation Dyskinesia Chronic axonal neuropathy Impaired distal vibration sensation Elevated alpha-fetoprotein Pontocerebellar atrophy Conjunctival telangiectasia Saccadic smooth pursuit Decreased number of large peripheral myelinated nerve fibers Head tremor Impaired smooth pursuit Hemolytic anemia Parkinsonism Cerebellar vermis atrophy Bipolar affective disorder Personality disorder Increased muscle fatiguability Hyporeflexia of lower limbs Excessive salivation Orofacial dyskinesia Tics Acanthocytosis Left bundle branch block Insomnia Memory impairment Restlessness Impaired pain sensation Impaired vibration sensation in the lower limbs Bowel incontinence Ventricular fibrillation Emotional lability Personality changes Obsessive-compulsive behavior Sleep apnea Progressive gait ataxia Gaze-evoked nystagmus Impaired temperature sensation Hypertelorism Oligohydramnios Premature birth Pulmonary hypoplasia Arthrogryposis multiplex congenita Narrow mouth Patent ductus arteriosus High palate Flexion contracture Orthostatic syncope Hypohidrosis Abnormal ventricular filling Peripheral edema Biventricular hypertrophy Atrial arrhythmia Reduced ejection fraction Right ventricular hypertrophy Edema of the lower limbs Exertional dyspnea Pericardial effusion Decreased fetal movement Microretrognathia Increased antibody level in blood Abnormality of extrapyramidal motor function Postural tremor Premature ovarian insufficiency Hypoalbuminemia Hypercholesterolemia Oculomotor apraxia Diplopia Telangiectasia Choreoathetosis Apraxia Strabismus Severe muscular hypotonia Multiple prenatal fractures Fractures of the long bones Diaphragmatic eventration Muscle fiber atrophy Secundum atrial septal defect Axonal loss Neonatal respiratory distress Congenital contracture Patent foramen ovale Generalized limb muscle atrophy Abnormal social behavior Vasculitis Hip pain Pelvic girdle muscle atrophy Cranial nerve compression Calvarial hyperostosis Motor neuron atrophy Dyscalculia Abnormality of calvarial morphology EMG: chronic denervation signs Shoulder girdle muscle atrophy Pelvic girdle muscle weakness Elevated alkaline phosphatase of bone origin Upper motor neuron dysfunction Shoulder girdle muscle weakness EMG: neuropathic changes Progressive proximal muscle weakness Frontotemporal dementia Rimmed vacuoles Abnormality of the vertebral column Pathologic fracture Difficulty climbing stairs Frontal cortical atrophy Scapuloperoneal weakness Amyotrophic lateral sclerosis Arthritis Hemiparesis Cardiomegaly Bilateral sensorineural hearing impairment Urinary incontinence Gliosis Nephropathy Paraplegia Malabsorption Weight loss Semantic dementia Headache Hydrocephalus Fever Weakness of muscles of respiration Abnormal motor neuron morphology Ubiquitin-positive cerebral inclusion bodies Temporal cortical atrophy Pelvic girdle amyotrophy Abnormality of long bone morphology Dysphasia Alzheimer disease Abnormal lactate dehydrogenase activity Small for gestational age Myoglobinuria Tricuspid regurgitation Decreased nerve conduction velocity Hyperammonemia Hydrops fetalis Generalized muscle weakness Muscle cramps Lethargy Respiratory tract infection Skeletal myopathy Myalgia Recurrent respiratory infections Abnormality of the astrocytes Hyporeflexia of upper limbs Abnormal facial expression Blood group antigen abnormality Recurrent singultus Abnormal corpus striatum morphology Caudate atrophy Hypoparathyroidism Progressive peripheral neuropathy Language impairment Tetraparesis Limb-girdle muscular dystrophy Back pain Increased susceptibility to fractures Elevated alkaline phosphatase Abnormality of pelvic girdle bone morphology Mutism Scapular winging Fasciculations Progressive muscle weakness Lumbar hyperlordosis Abnormality of the amniotic fluid Waddling gait Muscular dystrophy Hyperlordosis Proximal muscle weakness Cataract Respiratory failure requiring assisted ventilation Exercise-induced rhabdomyolysis Prenatal maternal abnormality Recurrent myoglobinuria Basal ganglia necrosis



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