Congestive heart failure, and Sensory neuropathy

Diseases related with Congestive heart failure and Sensory neuropathy

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


Top matches:

Medium match ATAXIA, SENSORY, 1, AUTOSOMAL DOMINANT; SNAX1


ATAXIA, SENSORY, 1, AUTOSOMAL DOMINANT; SNAX1 Is also known as adsa

Related symptoms:

  • Ataxia
  • Dysarthria
  • Gait disturbance
  • Dysphagia
  • Congestive heart failure


SOURCES: OMIM MENDELIAN

More info about ATAXIA, SENSORY, 1, AUTOSOMAL DOMINANT; SNAX1

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 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

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Other less relevant matches:

Low 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

Low match MITOCHONDRIAL TRIFUNCTIONAL PROTEIN DEFICIENCY


Mitochondrial trifunctional protein (TFP) deficiency (TFPD) is a disorder of fatty acid oxidation characterized by a wide clinical spectrum ranging from severe neonatal manifestations including cardiomyopathy, hypoglycemia, metabolic acidosis, skeletal myopathy and neuropathy, liver disease and death to a mild phenotype with peripheral polyneuropathy, episodic rhabdomyolysis and pigmentary retinopathy..

MITOCHONDRIAL TRIFUNCTIONAL PROTEIN DEFICIENCY Is also known as tfpd|tfp deficiency

Related symptoms:

  • Failure to thrive
  • Muscle weakness
  • Muscular hypotonia
  • Motor delay
  • Peripheral neuropathy


SOURCES: ORPHANET MENDELIAN

More info about MITOCHONDRIAL TRIFUNCTIONAL PROTEIN DEFICIENCY

Low 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

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 MYOPATHY, MYOFIBRILLAR, 1; MFM1


Myofibrillar myopathy (MFM) is a noncommittal term that refers to a group of morphologically homogeneous, but genetically heterogeneous chronic neuromuscular disorders. The morphologic changes in skeletal muscle in MFM result from disintegration of the sarcomeric Z disc and the myofibrils, followed by abnormal ectopic accumulation of multiple proteins involved in the structure of the Z disc, including desmin, alpha-B-crystallin (CRYAB ), dystrophin (OMIM ), and myotilin (TTID ). Genetic Heterogeneity of Myofibrillar MyopathyOther forms of MFM include MFM2 (OMIM ), caused by mutation in the CRYAB gene (OMIM ); MFM3 (OMIM ) (OMIM ), caused by mutation in the MYOT gene (OMIM ); MFM4 (OMIM ), caused by mutation in the ZASP gene (LDB3 ); MFM5 (OMIM ), caused by mutation in the FLNC gene (OMIM ); MFM6 (OMIM ), caused by mutation in the BAG3 gene (OMIM ); MFM7 (OMIM ), caused by mutation in the KY gene (OMIM ); and MFM8 (OMIM ), caused by mutation in the PYROXD1 gene (OMIM ).'Desmin-related myopathy' is another term referring to MFM in which there are intrasarcoplasmic aggregates of desmin, usually in addition to other sarcomeric proteins. Rigid spine syndrome (OMIM ), caused by mutation in the SEPN1 gene (OMIM ), is another desmin-related myopathy. Goebel (1995) provided a review of desmin-related myopathy.

MYOPATHY, MYOFIBRILLAR, 1; MFM1 Is also known as drm|cardiomyopathy, dilated, with conduction defect and muscular dystrophy|cardiomyopathy, dilated, 1f and limb-girdle muscular dystrophy type 1d, formerly|myopathy, myofibrillar, desmin-related|lgmd2r, formerly|desminopathy, primary|arvd7, formerly|cmd1f

Related symptoms:

  • Scoliosis
  • Muscle weakness
  • Pain
  • Cataract
  • Flexion contracture


SOURCES: ORPHANET OMIM MENDELIAN

More info about MYOPATHY, MYOFIBRILLAR, 1; MFM1

Low 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

Low 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

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

Symptoms // Phenotype % cases
Muscle weakness Common - Between 50% and 80% cases
Arrhythmia Common - Between 50% and 80% cases
Elevated serum creatine phosphokinase Common - Between 50% and 80% cases
Paresthesia Common - Between 50% and 80% cases
Cardiomyopathy Common - Between 50% and 80% cases
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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Areflexia Gait disturbance Peripheral neuropathy Myopathy Neuronal loss in central nervous system Dysarthria Respiratory insufficiency Sensory axonal neuropathy Diarrhea Myalgia EMG: myopathic abnormalities Atrial fibrillation Peripheral axonal neuropathy Skeletal muscle atrophy Constipation Ataxia Facial palsy Short stature Dementia Dystonia Dysphagia Peripheral demyelination Hyporeflexia Babinski sign Seizures Distal muscle weakness Dilated cardiomyopathy

Rare Symptoms - Less than 30% cases


Chorea Motor axonal neuropathy Polyneuropathy Tremor Distal amyotrophy Progressive muscle weakness Hyporeflexia of lower limbs Scapular winging Progressive proximal muscle weakness Ventricular extrasystoles Restrictive cardiomyopathy Muscle cramps Behavioral abnormality Elevated hepatic transaminase Depressivity Aphasia Dyspnea Anxiety Lower limb muscle weakness Scoliosis Atrioventricular block Urinary bladder sphincter dysfunction Rimmed vacuoles Hallucinations Difficulty climbing stairs Emotional lability Increased variability in muscle fiber diameter Sensorimotor neuropathy Limb-girdle muscular dystrophy Cognitive impairment Nystagmus Bowel incontinence Cataract Cardiac amyloidosis Proximal muscle weakness Respiratory failure Dilatation Hypotension Heart block Orthostatic hypotension Hypertonia Pain Impotence Exercise intolerance Sensory ataxia Gliosis Distal sensory impairment Abnormal renal physiology Flexion contracture Rhabdomyolysis Feeding difficulties in infancy Fasciculations Chest pain EMG abnormality Limb muscle weakness Hypokalemia Muscular dystrophy Writer's cramp Intestinal pseudo-obstruction Hypermagnesiuria Sick sinus syndrome Third degree atrioventricular block Laryngospasm Late-onset proximal muscle weakness Cortical myoclonus Hypocalcemic seizures Restrictive heart failure Brain atrophy Pica Skeletal myopathy Sudden cardiac death Increased circulating renin level Intellectual disability Ventriculomegaly Myocardial infarction Abnormal pattern of respiration Ventricular hypertrophy Cerebral cortical atrophy Hyperlordosis Hepatic steatosis Right ventricular cardiomyopathy Atrial flutter Palpitations Right bundle branch block Ventricular tachycardia Hypertrophic cardiomyopathy Respiratory insufficiency due to muscle weakness Elbow flexion contracture Joint stiffness Akinesia Tricuspid regurgitation Pneumonia Muscle stiffness Bundle branch block Mildly elevated creatine phosphokinase Myofibrillar myopathy Respiratory distress Hypokinesia Syncope Delayed speech and language development Spinal rigidity Vertigo Centrally nucleated skeletal muscle fibers Neck muscle weakness Tachycardia Generalized muscle weakness Bulbar palsy Shoulder girdle muscle atrophy Waddling gait Paraplegia Hemiparesis Cardiomegaly Bilateral sensorineural hearing impairment Migraine Urinary incontinence Coma Nephropathy Malabsorption Abnormal autonomic nervous system physiology Arthritis Weight loss Headache Renal insufficiency Vomiting Hydrocephalus Fever Visual impairment Vasculitis Paraparesis Sensorineural hearing impairment Multiple myeloma Vitreous floaters Orthostatic hypotension due to autonomic dysfunction Psychomotor deterioration Urinary retention Myelopathy Constrictive median neuropathy Stroke-like episode Increased CSF protein Spastic paraparesis Syringomyelia Amyloidosis Decreased number of peripheral myelinated nerve fibers Axonal degeneration Malnutrition Cerebral hemorrhage Rheumatoid arthritis Cachexia Spasticity Hearing impairment Lumbar hyperlordosis Alzheimer disease EMG: neuropathic changes Frontotemporal dementia Abnormality of the vertebral column Pathologic fracture Generalized amyotrophy Dysphasia Amyotrophic lateral sclerosis Spinal muscular atrophy Upper motor neuron dysfunction Language impairment Back pain Increased susceptibility to fractures Elevated alkaline phosphatase Abnormality of pelvic girdle bone morphology Mutism Osteolysis Tetraparesis Shoulder girdle muscle weakness Pelvic girdle muscle weakness Weakness of muscles of respiration Frontal cortical atrophy Abnormal motor neuron morphology Ubiquitin-positive cerebral inclusion bodies Temporal cortical atrophy Pelvic girdle amyotrophy Abnormality of long bone morphology Semantic dementia Scapuloperoneal weakness Elevated alkaline phosphatase of bone origin Pelvic girdle muscle atrophy Hip pain Cranial nerve compression Calvarial hyperostosis Motor neuron atrophy Fatty replacement of skeletal muscle Dyscalculia Abnormality of calvarial morphology EMG: chronic denervation signs Reduced consciousness/confusion Tetany Orofacial dyskinesia Hyperphosphatemia Slurred speech Gaze-evoked nystagmus Increased antibody level in blood Decreased motor nerve conduction velocity Postural tremor Premature ovarian insufficiency Hypoalbuminemia Hypercholesterolemia Progressive gait ataxia Oculomotor apraxia Truncal ataxia Diplopia Limb ataxia Telangiectasia Choreoathetosis Apraxia Cerebellar vermis atrophy Impaired smooth pursuit Sensory impairment Diffuse cerebellar atrophy Apnea Hypoglycemia Motor delay Muscular hypotonia Failure to thrive Impaired distal tactile sensation Chronic axonal neuropathy Impaired distal vibration sensation Head tremor Elevated alpha-fetoprotein Pontocerebellar atrophy Conjunctival telangiectasia Saccadic smooth pursuit Decreased number of large peripheral myelinated nerve fibers Gait imbalance Impaired proprioception Abnormality of extrapyramidal motor function Progressive cerebellar ataxia Small for gestational age Pericardial effusion Atrial arrhythmia Abnormal echocardiogram Reduced ejection fraction Right ventricular hypertrophy Edema of the lower limbs Exertional dyspnea Abnormal cardiac septum morphology Peripheral edema Gait instability, worse in the dark Distal sensory impairment of all modalities Distal sensory loss of all modalities Positive Romberg sign Abnormal cerebellum morphology Falls Dysmetria Biventricular hypertrophy Abnormal ventricular filling Neurodegeneration Episodic flaccid weakness Abnormality of the foot Abnormal pyramidal sign Gait ataxia Pes cavus Cerebellar atrophy Strabismus Periodic hyperkalemic paralysis Malignant hyperthermia Orthostatic syncope Hyperkalemia Skeletal muscle hypertrophy Ophthalmoparesis Myotonia Hyponatremia Cerebral palsy Reduced tendon reflexes Abnormality of the liver Lethargy Hypomagnesemia Abnormal social behavior Abnormal facial expression Blood group antigen abnormality Recurrent singultus Abnormal corpus striatum morphology Caudate atrophy Abnormal lactate dehydrogenase activity Impaired temperature sensation Abnormality of the astrocytes Generalized limb muscle atrophy Personality disorder Increased muscle fatiguability Excessive salivation Tics Acanthocytosis Supraventricular tachycardia Hyporeflexia of upper limbs Optic atrophy Bipolar affective disorder Abnormality of the fingernails Hypoparathyroidism Irregular hyperpigmentation Fatigable weakness Basal ganglia calcification Hypercalciuria Reduced bone mineral density Increased intracranial pressure Nephrocalcinosis Fatigue Hypocalcemia Abnormality of the nail Nephrolithiasis Eczema Dry skin Abdominal pain Alopecia Left bundle branch block Insomnia Lactic acidosis Recurrent myoglobinuria Hepatosplenomegaly Hyperhidrosis Cerebral atrophy Splenomegaly Hepatomegaly Anemia Prenatal maternal abnormality Abnormality of the amniotic fluid Mental deterioration Hypoketotic hypoglycemia Myoglobinuria Hyperammonemia Infantile muscular hypotonia Hydrops fetalis Cholestasis Pigmentary retinopathy Rigidity Abnormality of the cerebral white matter Restlessness Cardiac arrest Impaired pain sensation Impaired vibration sensation in the lower limbs Ventricular fibrillation Personality changes Obsessive-compulsive behavior Ventricular arrhythmia Sleep apnea Left ventricular hypertrophy Abnormality of movement Involuntary movements Generalized-onset seizure Memory impairment Parkinsonism Dyskinesia Hemolytic anemia Confusion Amyloid deposition in the vitreous humor



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