Congestive heart failure, and Sensory impairment

Diseases related with Congestive heart failure and Sensory impairment

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

Top matches:

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

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

Nemaline myopathy-1 is a disorder characterized by muscle weakness, usually beginning in early childhood. The severity and pattern of muscle weakness varies, but most affected individuals show mildly delayed motor development, hypotonia, generalized muscle weakness, and weakness of the proximal limb muscles and neck muscles, resulting in difficulty running and easy fatigability. Most patients have respiratory insufficiency due to muscle weakness. Other common features include myopathic facies, high-arched palate, and scoliosis. Histologic findings on skeletal muscle biopsy are variable, even in patients with the same mutation. Muscle fibers can contain nemaline rod inclusions, or so-called subsarcolemmal 'cap' structures, as well as show overall fiber-type disproportion. It has been suggested that unknown modifying factors confer a tendency to one or another pattern of inclusions on skeletal muscle biopsy in those with TPM3 mutations (summary by Waddell et al., 2010 and Malfatti et al., 2013).For a discussion of genetic heterogeneity of nemaline myopathy, see {161800}.

Related symptoms:

  • Generalized hypotonia
  • Scoliosis
  • Muscle weakness
  • Muscular hypotonia
  • Flexion contracture


SOURCES: MESH OMIM MENDELIAN

More info about NEMALINE MYOPATHY 1; NEM1

Other less relevant matches:

Glycogen storage disease due to LAMP-2 (Lysosomal-Associated Membrane Protein 2) deficiency is a lysosomal glycogen storage disease characterised by severe cardiomyopathy and variable degrees of muscle weakness, frequently associated with intellectual deficit.

GLYCOGEN STORAGE DISEASE DUE TO LAMP-2 DEFICIENCY Is also known as vacuolar cardiomyopathy and myopathy, x-linked|antopol disease|gsd due to lamp-2 deficiency|lysosomal glycogen storage disease without acid maltase deficiency, formerly|glycogenosis due to lamp-2 deficiency|gsd2b, formerly|gsd iib, formerly|glycogen stora

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Muscle weakness
  • Pain
  • Cognitive impairment


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about GLYCOGEN STORAGE DISEASE DUE TO LAMP-2 DEFICIENCY

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

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

Refsum disease is an autosomal recessive inborn error of lipid metabolism classically characterized by a tetrad of clinical abnormalities: retinitis pigmentosa, peripheral neuropathy, cerebellar ataxia, and elevated protein levels in the cerebrospinal fluid (CSF) without an increase in the number of cells. However, not all patients show all these features. All patients have accumulation of an unusual branched-chain fatty acid, phytanic acid, in blood and tissues. Other variable features include cardiac dysfunction, nerve deafness, ichthyosis, and multiple epiphyseal dysplasia (review by Skjeldal et al., 1987).Increased levels of phytanic acid can also be found in peroxisomal biogenesis disorders; see Zellweger syndrome (see {214100}) (Skjeldal et al., 1987).Infantile Refsum disease (see PBD1B, {601539}) is a distinct disorder with a different phenotype and genetic basis.A phenotype clinically indistinguishable from that of classic Refsum disease (PBD9B ), but with a different biochemical profile, can be caused by mutation in the gene encoding peroxin-7 (PEX7 ) on chromosome 6q.

REFSUM DISEASE, CLASSIC Is also known as heredopathia atactica polyneuritiformis|hmsn iv|phytanic acid oxidase deficiency|hereditary motor and sensory neuropathy iv|hmsn4|refsum disease, adult, 1

Related symptoms:

  • Seizures
  • Global developmental delay
  • Hearing impairment
  • Ataxia
  • Nystagmus


SOURCES: OMIM MENDELIAN

More info about REFSUM DISEASE, CLASSIC

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

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

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

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

Symptoms // Phenotype % cases
Muscle weakness Common - Between 50% and 80% cases
Ataxia Common - Between 50% and 80% cases
Peripheral neuropathy Common - Between 50% and 80% cases
Cardiomyopathy Common - Between 50% and 80% cases
Dysphagia Common - Between 50% and 80% cases

Other less frequent symptoms

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

Common Symptoms - More than 50% cases

Dysarthria

Uncommon Symptoms - Between 30% and 50% cases

Hyporeflexia Babinski sign Areflexia Arrhythmia Pes cavus Nystagmus Global developmental delay Respiratory distress Myopathy Dilated cardiomyopathy Peripheral axonal neuropathy Pain Peripheral demyelination Seizures Distal sensory impairment Gait disturbance Hearing impairment Elevated serum creatine phosphokinase Ventricular arrhythmia Scoliosis Respiratory insufficiency Limb muscle weakness Cardiac arrest Left ventricular hypertrophy Atrial fibrillation Cardiomegaly Dystonia Pigmentary retinopathy Depressivity Neuronal loss in central nervous system Sensory axonal neuropathy Visual impairment Sensorimotor neuropathy Chorea Mental deterioration Polyneuropathy Sensory neuropathy Falls Dysmetria Cerebellar atrophy Visual loss Reduced visual acuity Distal muscle weakness Cognitive impairment

Rare Symptoms - Less than 30% cases

Chest pain Involuntary movements Distal amyotrophy Abnormality of movement Paresthesia Hepatomegaly Retinopathy Skeletal muscle atrophy Lower limb muscle weakness Abnormality of the liver Hypertrophic cardiomyopathy Hyperactivity Fatigue Skeletal myopathy Ventricular hypertrophy Gait ataxia Truncal ataxia Decreased motor nerve conduction velocity Limb ataxia Spastic paraparesis Paraparesis Progressive cerebellar ataxia Neurodegeneration Abnormality of the foot Abnormal pyramidal sign Tremor Palpitations Urinary bladder sphincter dysfunction Impaired proprioception Gait imbalance Slurred speech Myocardial fibrosis Spasticity Dementia Elevated hepatic transaminase Decreased liver function Hallucinations Cachexia Generalized muscle weakness Vomiting Ptosis Neonatal hypotonia Difficulty walking Psychosis Sensorineural hearing impairment Cone/cone-rod dystrophy Renal insufficiency Dysdiadochokinesis Increased CSF protein Facial palsy Proximal muscle weakness Pes planus Hypertonia Dyspnea Respiratory failure Kyphosis Cerebral atrophy Blindness Abnormal renal physiology Muscle stiffness Hypotension Generalized hypotonia Abnormal cerebellum morphology Rhabdomyolysis Gliosis Sensory ataxia Positive Romberg sign Coma Failure to thrive Muscular hypotonia Feeding difficulties EMG: myopathic abnormalities Respiratory insufficiency due to muscle weakness Motor delay Orofacial dyskinesia Paraplegia Malabsorption Arthritis Migraine Urinary incontinence Nephropathy Hydrops fetalis Bilateral sensorineural hearing impairment Hemiparesis Vasculitis Multiple epiphyseal dysplasia Epiphyseal stippling Epiphyseal dysplasia Abnormal autonomic nervous system physiology Bilateral ptosis Anosmia Progressive hearing impairment Atrioventricular block Weight loss Acute hepatic steatosis Constipation Hepatic steatosis Respiratory tract infection Small for gestational age Lethargy Lactic acidosis Hepatic failure Abnormality of the amniotic fluid Metabolic acidosis Hypoglycemia Progressive peripheral neuropathy Hypoketotic hypoglycemia Hypoparathyroidism Myoglobinuria Muscle cramps Tricuspid regurgitation Decreased nerve conduction velocity Myalgia Recurrent myoglobinuria Miosis Short fourth metatarsal Headache Diarrhea Hydrocephalus Fever Respiratory failure requiring assisted ventilation Tachypnea Exercise-induced rhabdomyolysis Acidosis Prenatal maternal abnormality Hyperoxaluria Elevated levels of phytanic acid Ventriculomegaly Edema Dilatation Recurrent respiratory infections Hyperammonemia Inability to walk Rheumatoid arthritis Asymmetric septal hypertrophy Sinus tachycardia Abnormal saccadic eye movements Abnormality of cardiovascular system physiology Lower limb amyotrophy Abnormal echocardiogram Poor fine motor coordination T-wave inversion Subvalvular aortic stenosis Spinocerebellar tract degeneration Reduced systolic function Hyposmia Areflexia of lower limbs Increased reactive oxygen species production Ketoacidosis Ketosis Heart block Abnormality of visual evoked potentials Abnormal EKG Hand muscle atrophy Decreased sensory nerve conduction velocity Optic neuropathy Mitochondrial malic enzyme reduced Impaired visually enhanced vestibulo-ocular reflex Structural foot deformity Abolished vibration sense Spinal cord posterior columns myelin loss Palmar hyperhidrosis Temporal optic disc pallor Abnormality of the dentate nucleus Decreased pyruvate carboxylase activity Cervical spinal cord atrophy Diabetic ketoacidosis Muscular subvalvular aortic stenosis Decreased amplitude of sensory action potentials Hemifacial hypertrophy Abnormality of the autonomic nervous system Incomprehensible speech Upper limb amyotrophy Cerebellar cortical atrophy Concentric hypertrophic cardiomyopathy Thoracic scoliosis Hyperactive deep tendon reflexes Cerebral hemorrhage Multiple myeloma Cardiac amyloidosis Vitreous floaters Orthostatic hypotension due to autonomic dysfunction Psychomotor deterioration Urinary retention Myelopathy Constrictive median neuropathy Stroke-like episode Restrictive cardiomyopathy Optic atrophy Syringomyelia Amyloidosis Decreased number of peripheral myelinated nerve fibers Orthostatic hypotension Axonal degeneration Aphasia Malnutrition Impotence Amyloid deposition in the vitreous humor Talipes equinovarus Visual field defect Clumsiness Glucose intolerance Hammertoe Impaired vibratory sensation Incoordination Reduced tendon reflexes Insulin resistance Spastic gait Lower limb spasticity Intention tremor Diabetes mellitus Optic disc pallor Renal cyst Tachycardia Vertigo Unsteady gait Abnormality of eye movement Pallor Kyphoscoliosis Cerebral cortical atrophy Leukodystrophy Rigidity Retinal degeneration Myopia Ventricular tachycardia Hyperlipidemia Exercise intolerance Progressive visual loss Scarring Abnormality of the eye Hypertension Back pain Intellectual disability Shoulder girdle muscle atrophy Myokymia Slender build Distal lower limb muscle weakness Distal lower limb amyotrophy Nemaline bodies Abnormal electroretinogram Neurodevelopmental delay Thoracic kyphosis Muscle flaccidity Macular hypopigmentation Left ventricular systolic dysfunction Myocardial necrosis Ventricular preexcitation Impaired myocardial contractility Exercise-induced muscle cramps Retinal pigment epithelial mottling Autophagic vacuoles Generalized amyotrophy Myofibrillar myopathy Wolff-Parkinson-White syndrome Reduced ejection fraction Abnormality of the gastrointestinal tract Cardiorespiratory arrest Hypokinesia Abnormal retinal morphology Facial diplegia Neck muscle weakness Increased cerebral lipofuscin Restless legs Hyperlordosis Retrognathia Pectus excavatum High palate Flexion contracture Abnormal fundus morphology Hemeralopia Ophthalmoparesis Muscular dystrophy Macular degeneration Ophthalmoplegia Photophobia Hyperreflexia Gait instability, worse in the dark Distal sensory impairment of all modalities Distal sensory loss of all modalities Pectus carinatum Arthrogryposis multiplex congenita Difficulty running Knee flexion contracture Centrally nucleated skeletal muscle fibers Difficulty climbing stairs Decreased muscle mass Myopathic facies Increased variability in muscle fiber diameter Congenital muscular dystrophy Easy fatigability Narrow face Narrow chest Progressive muscle weakness Frequent falls Open mouth Lumbar hyperlordosis Decreased fetal movement Waddling gait Long face Suicidal ideation Glycogen accumulation in muscle fiber lysosomes Ichthyosis Insomnia Tics Acanthocytosis Supraventricular tachycardia Motor axonal neuropathy Left bundle branch block Ventricular extrasystoles Bipolar affective disorder Restlessness Hyporeflexia of lower limbs Impaired pain sensation Impaired vibration sensation in the lower limbs Bowel incontinence Ventricular fibrillation Emotional lability Personality changes Obsessive-compulsive behavior Excessive salivation Increased muscle fatiguability Generalized-onset seizure Abnormal facial expression Nyctalopia Rod-cone dystrophy Wide nasal bridge Delayed speech and language development Cataract Abnormality of the astrocytes Hyporeflexia of upper limbs Blood group antigen abnormality Personality disorder Recurrent singultus Abnormal corpus striatum morphology Caudate atrophy Abnormal lactate dehydrogenase activity Abnormal social behavior Impaired temperature sensation Generalized limb muscle atrophy Sleep apnea Memory impairment Strabismus Premature ovarian insufficiency Head tremor Impaired smooth pursuit Progressive gait ataxia Cerebellar vermis atrophy Gaze-evoked nystagmus Increased antibody level in blood Postural tremor Hypoalbuminemia Saccadic smooth pursuit Hypercholesterolemia Oculomotor apraxia Diplopia Telangiectasia Choreoathetosis Apraxia Abnormality of extrapyramidal motor function Decreased number of large peripheral myelinated nerve fibers Conjunctival telangiectasia Parkinsonism Splenomegaly Dyskinesia Hemolytic anemia Confusion Abnormality of the cerebral white matter Anxiety Hepatosplenomegaly Hyperhidrosis Behavioral abnormality Pontocerebellar atrophy Anemia Short stature Impaired distal tactile sensation Chronic axonal neuropathy Diffuse cerebellar atrophy Impaired distal vibration sensation Elevated alpha-fetoprotein Atrophic superior cerebellar peduncle


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