Congestive heart failure, and Dysarthria

Diseases related with Congestive heart failure and Dysarthria

In the following list you will find some of the most common rare diseases related to Congestive heart failure and Dysarthria 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

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

Other less relevant matches:

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

Medium match ACERULOPLASMINEMIA

Aceruloplasminemia is an adult-onset disorder of neurodegeneration with brain iron accumulation (NBIA; see this term) characterized by anemia, retinal degeneration, diabetes and various neurological symptoms.

ACERULOPLASMINEMIA Is also known as hereditary ceruloplasmin deficiency

Related symptoms:

  • Ataxia
  • Spasticity
  • Cognitive impairment
  • Anemia
  • Delayed speech and language development


SOURCES: OMIM ORPHANET MENDELIAN

More info about ACERULOPLASMINEMIA

Phosphoenolpyruvate carboxykinase (PEPCK) deficiency is a gluconeogenesis disorder that results from impairment in the enzyme PEPCK, and comprising cytosolic (PEPCK1) and mitochondrial (PEPCK2) forms of enzyme deficiency. Onset of symptoms is neonatal or a few months after birth and includes hypoglycemia associated with acute episodes of severe lactic acidosis, progressive neurological deterioration, severe liver failure, renal tubular acidosis and Fanconi syndrome. Patients also present progressive multisystem damage with failure to thrive, muscular weakness and hypotonia, developmental delay with seizures, spasticity, lethargy, microcephaly and cardiomyopathy. To date, there is no conclusive evidence of the existence of an isolated form of this disorder.

PHOSPHOENOLPYRUVATE CARBOXYKINASE DEFICIENCY Is also known as pepck deficiency|pc deficiency|leigh necrotizing encephalopathy due to pyruvate carboxylase deficiency|ataxia with lactic acidosis ii|leigh syndrome due to pyruvate carboxylase deficiency

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about PHOSPHOENOLPYRUVATE CARBOXYKINASE DEFICIENCY

Autosomal recessive centronuclear myopathy (AR-CNM) is an inherited neuromuscular disorder defined by numerous centrally placed nuclei on muscle biopsy and clinical features of a congenital myopathy.

AUTOSOMAL RECESSIVE CENTRONUCLEAR MYOPATHY Is also known as myopathy, centronuclear, autosomal recessive|myotubular myopathy, autosomal recessive|ar-cnm

Related symptoms:

  • Intellectual disability
  • Generalized hypotonia
  • Scoliosis
  • Muscle weakness
  • Abnormal facial shape


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about AUTOSOMAL RECESSIVE CENTRONUCLEAR MYOPATHY

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

Maternally inherited diabetes and deafness (MIDD) is a mitochondrial disorder characterized by maternally transmitted diabetes and sensorineural deafness.

MATERNALLY-INHERITED DIABETES AND DEAFNESS Is also known as ballinger-wallace syndrome|diabetes-deafness syndrome, maternally transmitted|mitochondrial diabetes|noninsulin-dependent diabetes mellitus with deafness|niddm with deafness|diabetes mellitus, type ii, with deafness|midd

Related symptoms:

  • Intellectual disability
  • Seizures
  • Hearing impairment
  • Ataxia
  • Sensorineural hearing impairment


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about MATERNALLY-INHERITED DIABETES AND DEAFNESS

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

Symptoms // Phenotype % cases
Ataxia Common - Between 50% and 80% cases
Cognitive impairment Uncommon - Between 30% and 50% cases
Muscle weakness Uncommon - Between 30% and 50% cases
Dysphagia Uncommon - Between 30% and 50% cases
Babinski sign Uncommon - Between 30% and 50% cases

Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases

Chorea Cardiomyopathy Intellectual disability Dystonia Motor delay Areflexia Tremor Orofacial dyskinesia Involuntary movements Cerebral atrophy Dementia Difficulty walking Rigidity Hypertonia Ophthalmoplegia Skeletal muscle atrophy Seizures Myopathy Gait disturbance Neuronal loss in central nervous system Generalized hypotonia

Rare Symptoms - Less than 30% cases

Delayed speech and language development Depressivity Behavioral abnormality Sensorimotor neuropathy Sensory axonal neuropathy Respiratory distress Arrhythmia Ophthalmoparesis Anemia Sensory impairment Left bundle branch block Mental deterioration Neonatal hypotonia Cerebellar atrophy Feeding difficulties Failure to thrive Sensory neuropathy Diabetes mellitus Elevated serum creatine phosphokinase Global developmental delay Pes cavus Dyspnea Ptosis Distal muscle weakness Left ventricular hypertrophy Renal insufficiency Hepatomegaly Slurred speech Gait ataxia External ophthalmoplegia Abnormality of extrapyramidal motor function Peripheral neuropathy Memory impairment Parkinsonism Neurodegeneration Retinal degeneration Confusion Nystagmus Scoliosis Hyperreflexia Anxiety Dyskinesia Dysmetria Hyporeflexia Abnormality of movement Respiratory insufficiency due to muscle weakness Dilated cardiomyopathy Insomnia Personality changes Respiratory insufficiency Spasticity Peripheral demyelination Choreoathetosis Distal sensory impairment Emotional lability Elevated alpha-fetoprotein Impaired distal vibration sensation Conjunctival telangiectasia Pontocerebellar atrophy Saccadic smooth pursuit Decreased number of large peripheral myelinated nerve fibers Gait imbalance Diffuse cerebellar atrophy Pulmonary edema Chronic axonal neuropathy Impaired distal tactile sensation Short stature Impaired proprioception Hyperhidrosis Hepatosplenomegaly Elevated hepatic transaminase Abnormality of the cerebral white matter Lower limb muscle weakness Paresthesia Hemolytic anemia Generalized-onset seizure Atrial fibrillation Hallucinations Splenomegaly Urinary bladder sphincter dysfunction Head tremor Limb ataxia Axial muscle weakness EMG: decremental response of compound muscle action potential to repetitive nerve stimulation Strabismus Gliosis Abnormal pyramidal sign Abnormality of the foot Peripheral axonal neuropathy Distal amyotrophy Abnormal cerebellum morphology Polyneuropathy Progressive cerebellar ataxia Apraxia Telangiectasia Diplopia Impaired smooth pursuit Truncal ataxia Oculomotor apraxia Hypercholesterolemia Hypoalbuminemia Premature ovarian insufficiency Postural tremor Decreased motor nerve conduction velocity Falls Increased antibody level in blood Gaze-evoked nystagmus Cerebellar vermis atrophy Sleep apnea Progressive gait ataxia Cardiac arrest Impaired vibration sensation in the lower limbs Ventricular arrhythmia Bilateral sensorineural hearing impairment Hypertension Optic atrophy Constipation Myalgia Proteinuria Hypertrophic cardiomyopathy Abnormality of the kidney Retinopathy Malabsorption Unsteady gait Vertigo Pigmentary retinopathy Type II diabetes mellitus Cataract Pancytopenia Ragged-red muscle fibers Constriction of peripheral visual field Aplasia/Hypoplasia of the cerebellum Hyperglycemia Bundle branch block Vestibular dysfunction Macular dystrophy Abnormal retinal morphology Progressive sensorineural hearing impairment Glomerulopathy Retinal atrophy Abnormality of lipid metabolism Visual impairment Sensorineural hearing impairment Obsessive-compulsive behavior Excessive salivation Ventricular fibrillation Bowel incontinence Rhabdomyolysis Facial diplegia Impaired pain sensation Restlessness Bipolar affective disorder Ventricular extrasystoles Motor axonal neuropathy Supraventricular tachycardia Acanthocytosis Tics Hyporeflexia of lower limbs Hearing impairment Increased muscle fatiguability Personality disorder Generalized limb muscle atrophy Impaired temperature sensation Abnormal social behavior Abnormal lactate dehydrogenase activity Caudate atrophy Abnormal corpus striatum morphology Recurrent singultus Blood group antigen abnormality Abnormal facial expression Hyporeflexia of upper limbs Abnormality of the astrocytes Type 1 muscle fiber predominance Difficulty climbing stairs Difficulty running Blepharospasm Myokymia Cirrhosis Limb hypertonia Resting tremor Delayed gross motor development Type I diabetes mellitus Torticollis Cerebral palsy Hyperkinesis Polyuria Muscle fibrillation Increased serum ferritin Cogwheel rigidity Poor speech Scanning speech Refractory anemia Decreased serum ceruloplasmin Elevated hepatic iron concentration Decreased serum iron Aceruloplasminemia Muscular hypotonia Macrocephaly Intellectual disability, severe Vomiting Muscular hypotonia of the trunk Encephalopathy Paroxysmal dyskinesia Hypothyroidism Acidosis Photophobia Primitive reflex Perseveration Bulimia Semantic dementia Supranuclear gaze palsy Abnormal lower motor neuron morphology Frontotemporal dementia Global brain atrophy Blindness Agitation Visual loss Reduced visual acuity Amyotrophic lateral sclerosis Facial myokymia Apathy Psychosis Macular degeneration Cone/cone-rod dystrophy Dysdiadochokinesis Restless legs Hemeralopia Abnormal fundus morphology Stereotypy Aggressive behavior Fatigue Cerebral cortical atrophy Edema Pneumonia Hypoglycemia Hip contracture Positive Romberg sign Distal sensory impairment of all modalities Retrognathia Proximal muscle weakness Facial palsy Feeding difficulties in infancy Hyperlordosis Protruding ear Distal sensory loss of all modalities Long face Generalized muscle weakness Bifid uvula Waddling gait Progressive muscle weakness Gait instability, worse in the dark Scapular winging Sensory ataxia EMG: myopathic abnormalities Dysphonia Bilateral ptosis Congenital contracture Gowers sign Generalized amyotrophy Disinhibition Long fingers Exertional dyspnea Abnormal heart valve morphology Centrally nucleated skeletal muscle fibers Narrow mouth Kyphosis Lactic acidosis Hyperalaninemia Metabolic acidosis Increased serum lactate Leukodystrophy Clonus Tachypnea Hyperammonemia CNS hypomyelination Athetosis Renal tubular acidosis Ketoacidosis Periventricular leukomalacia Dysgraphia Increased serum pyruvate Intellectual disability, mild Cystinuria Proximal renal tubular acidosis Increased head circumference Necrotizing encephalopathy Periventricular cysts Chronic metabolic acidosis Congenital lactic acidosis Neuronal loss in the cerebral cortex Abnormal facial shape Myoclonus Flexion contracture High palate Talipes equinovarus Abnormal chorioretinal morphology


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