Congestive heart failure, and Dysphagia

Diseases related with Congestive heart failure and Dysphagia

In the following list you will find some of the most common rare diseases related to Congestive heart failure and Dysphagia 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 COMBINED OXIDATIVE PHOSPHORYLATION DEFECT TYPE 17


Combined oxidative phosphorylation defect type 17 is a rare, genetic, mitochondrial disorder due to a defect in mitochondrial protein synthesis characterized by infantile-onset of severe hypertrophic cardiomyopathy (that occasionally progresses to dilated cardiomyopathy) associated with failure to thrive, global development delay, muscular hypotonia, elevated serum lactate and complex I deficiency in skeletal muscle biopsy. Intellectual disability, pericardial effusion and a mild cardiac phenotype have been also reported.

COMBINED OXIDATIVE PHOSPHORYLATION DEFECT TYPE 17 Is also known as coxpd17

Related symptoms:

  • Global developmental delay
  • Generalized hypotonia
  • Hearing impairment
  • Microcephaly
  • Growth delay


SOURCES: OMIM ORPHANET MENDELIAN

More info about COMBINED OXIDATIVE PHOSPHORYLATION DEFECT TYPE 17

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Other less relevant matches:

Medium match SPINOCEREBELLAR ATAXIA TYPE 7


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 X-LINKED MYOPATHY WITH POSTURAL MUSCLE ATROPHY


X-linked myopathy with postural muscle atrophy is a rare progressive muscular dystrophy characterized by an adult-onset scapulo-axio-peroneal myopathy. Clinical presentation includes shoulder girdle atrophy, scapular winging, axial muscular atrophy of postural muscles combined with a generalized hypertrophy. Typically, neck rigidity, rigid spine, Achilles tendon shortening, and respiratory insufficiency later in disease course are present.

X-LINKED MYOPATHY WITH POSTURAL MUSCLE ATROPHY Is also known as xmpma

Related symptoms:

  • Scoliosis
  • Muscle weakness
  • Pain
  • Ptosis
  • Flexion contracture


SOURCES: OMIM ORPHANET MENDELIAN

More info about X-LINKED MYOPATHY WITH POSTURAL MUSCLE ATROPHY

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 DIFFUSE CUTANEOUS SYSTEMIC SCLEROSIS


Diffuse cutaneous systemic sclerosis (dcSSc) is a subtype of Systemic Sclerosis (SSc; see this term) characterized by truncal and acral skin fibrosis with an early and significant incidence of diffuse involvement (interstitial lung disease, oliguric renal failure, diffuse gastrointestinal disease, and myocardial involvement).

DIFFUSE CUTANEOUS SYSTEMIC SCLEROSIS Is also known as progressive cutaneous systemic scleroderma|diffuse cutaneous systemic scleroderma|progressive cutaneous systemic sclerosis

Related symptoms:

  • Muscle weakness
  • Pain
  • Flexion contracture
  • Hypertension
  • Dysphagia


SOURCES: ORPHANET MENDELIAN

More info about DIFFUSE CUTANEOUS SYSTEMIC SCLEROSIS

Medium match NEMALINE MYOPATHY 1; NEM1


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

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

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

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

Symptoms // Phenotype % cases
Muscle weakness Common - Between 50% and 80% cases
Dysarthria Uncommon - Between 30% and 50% cases
Babinski sign Uncommon - Between 30% and 50% cases
Skeletal muscle atrophy Uncommon - Between 30% and 50% cases
Cardiomyopathy Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Flexion contracture Ataxia Gait disturbance Areflexia Respiratory insufficiency Peripheral neuropathy Cognitive impairment Chorea Sensory impairment Scoliosis Myopathy Elevated serum creatine phosphokinase Respiratory failure Rigidity Cerebral atrophy Neuronal loss in central nervous system Global developmental delay Dyspnea Generalized hypotonia

Rare Symptoms - Less than 30% cases


Respiratory distress Pes cavus Hypertonia Telangiectasia Respiratory insufficiency due to muscle weakness Personality changes Emotional lability Insomnia Nystagmus Dystonia Motor delay Cerebellar atrophy Sensory neuropathy Mental deterioration Pain Increased variability in muscle fiber diameter Hypertension Decreased fetal movement Arrhythmia Sensorimotor neuropathy Peripheral axonal neuropathy Arthrogryposis multiplex congenita Proximal muscle weakness Muscular dystrophy Sensory axonal neuropathy High palate Left ventricular hypertrophy Orofacial dyskinesia Distal muscle weakness Dilated cardiomyopathy Hyporeflexia Dysmetria Falls Distal sensory impairment Peripheral demyelination Dementia Muscular hypotonia Hypertrophic cardiomyopathy Failure to thrive Memory impairment Polyneuropathy Myokymia Shoulder girdle muscle atrophy Strabismus Tremor Abnormal facial expression Gait ataxia Abnormal pyramidal sign Abnormality of the foot Distal amyotrophy Involuntary movements Blood group antigen abnormality Neurodegeneration Progressive cerebellar ataxia Distal lower limb muscle weakness Abnormality of extrapyramidal motor function Apraxia Choreoathetosis Limb ataxia Recurrent singultus Diplopia Abnormal corpus striatum morphology Truncal ataxia Caudate atrophy Abnormal lactate dehydrogenase activity Oculomotor apraxia Hypercholesterolemia Slurred speech Slender build Hyporeflexia of upper limbs Impaired temperature sensation Knee flexion contracture Pectus carinatum Cardiac arrest Narrow chest Long face Ventricular arrhythmia Generalized muscle weakness Waddling gait Lumbar hyperlordosis Open mouth Frequent falls Progressive muscle weakness Narrow face Muscle stiffness EMG: myopathic abnormalities Distal lower limb amyotrophy Easy fatigability Congenital muscular dystrophy Myopathic facies Decreased muscle mass Hallucinations Difficulty climbing stairs Centrally nucleated skeletal muscle fibers Difficulty running Neck muscle weakness Thoracic kyphosis Facial diplegia Nemaline bodies Obsessive-compulsive behavior Abnormal social behavior Generalized limb muscle atrophy Rhabdomyolysis Hyperhidrosis Chronic axonal neuropathy Impaired distal tactile sensation Seizures Short stature Left bundle branch block Anemia Ventricular extrasystoles Hepatomegaly Behavioral abnormality Splenomegaly Depressivity Bipolar affective disorder Hepatosplenomegaly Hyperlordosis Restlessness Elevated hepatic transaminase Impaired pain sensation Impaired vibration sensation in the lower limbs Anxiety Abnormality of the cerebral white matter Abnormality of movement Lower limb muscle weakness Confusion Paresthesia Hemolytic anemia Dyskinesia Parkinsonism Diffuse cerebellar atrophy Impaired distal vibration sensation Hypoalbuminemia Gait imbalance Premature ovarian insufficiency Postural tremor Decreased motor nerve conduction velocity Ventricular fibrillation Increased antibody level in blood Gaze-evoked nystagmus Cerebellar vermis atrophy Urinary bladder sphincter dysfunction Progressive gait ataxia Impaired smooth pursuit Head tremor Impaired proprioception Personality disorder Bowel incontinence Elevated alpha-fetoprotein Increased muscle fatiguability Hyporeflexia of lower limbs Atrial fibrillation Generalized-onset seizure Decreased number of large peripheral myelinated nerve fibers Excessive salivation Saccadic smooth pursuit Tics Acanthocytosis Conjunctival telangiectasia Supraventricular tachycardia Motor axonal neuropathy Pontocerebellar atrophy Sleep apnea Arthralgia Facial palsy Hyperreflexia Amyotrophic lateral sclerosis Agitation Global brain atrophy Frontotemporal dementia Abnormal lower motor neuron morphology Supranuclear gaze palsy Pulmonary edema Disinhibition Primitive reflex Perseveration Bulimia Semantic dementia Feeding difficulties Blindness Stereotypy Visual loss Reduced visual acuity Photophobia Neonatal hypotonia Ophthalmoplegia Psychosis Macular degeneration Cone/cone-rod dystrophy Dysdiadochokinesis Ophthalmoparesis Restless legs Hemeralopia Abnormal fundus morphology Ptosis Apathy Aggressive behavior Dilatation Lactic acidosis Abnormal cerebellum morphology Gliosis Sensory ataxia Positive Romberg sign Distal sensory loss of all modalities Distal sensory impairment of all modalities Gait instability, worse in the dark Hearing impairment Microcephaly Growth delay Sensorineural hearing impairment Intrauterine growth retardation Acidosis Metabolic acidosis Cerebral cortical atrophy Increased serum lactate Infantile muscular hypotonia Abnormality of mitochondrial metabolism Abnormality of the basal ganglia Hyperalaninemia Cytochrome C oxidase-negative muscle fibers Decreased activity of mitochondrial complex I Oroticaciduria Abnormal mitochondrial morphology Myocardial necrosis Decreased activity of mitochondrial complex IV Hyperglutaminemia Spasticity Edema Short neck Ventricular hypertrophy Pes planus Osteolysis Diarrhea Renal insufficiency Constipation Weight loss Gastroesophageal reflux Arthritis Autoimmunity Carious teeth Malabsorption Nausea and vomiting Abnormality of the skin Pulmonary arterial hypertension Skin ulcer Pulmonary fibrosis Multiple prenatal fractures Telangiectasia of the skin Scleroderma Xerostomia Pulmonary infiltrates Osteolytic defects of the phalanges of the hand Oliguria Dyspareunia Decreased urine output Hypertensive crisis Narrow foramen obturatorium Abnormal bowel sounds Kyphosis Pectus excavatum Retrognathia Vomiting Fractures of the long bones Scapular winging Narrow mouth Dysphonia Back pain Skeletal muscle hypertrophy Spinal rigidity Rimmed vacuoles Limb-girdle muscle weakness Axial muscle weakness Stiff neck Scapuloperoneal weakness Limited neck flexion Hip flexor weakness Hypertelorism Patent ductus arteriosus Abnormal cardiac septum morphology Diaphragmatic eventration Pulmonary hypoplasia Premature birth Oligohydramnios Hypohidrosis Microretrognathia Severe muscular hypotonia Patent foramen ovale Congenital contracture Spinal muscular atrophy Neonatal respiratory distress Generalized amyotrophy Axonal loss Secundum atrial septal defect Muscle fiber atrophy Abnormality of the astrocytes



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