Congestive heart failure, and Neurological speech impairment

Diseases related with Congestive heart failure and Neurological speech impairment

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


Top matches:

Low 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

Low match FAMILIAL DYSKINESIA AND FACIAL MYOKYMIA


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

Low match X-LINKED INTELLECTUAL DISABILITY-CARDIOMEGALY-CONGESTIVE HEART FAILURE SYNDROME


X-linked intellectual disability-cardiomegaly-congestive heart failure syndrome is a rare X-linked syndromic intellectual disability disorder characterized by profound intellectual disability, global developmental delay with absent speech, seizures, large joint contractures, abnormal position of thumbs and middle-age onset of cardiomegaly and atrioventricular valve abnormalities, resulting in subsequent congestive heart failure. Additional features include variable facial dysmorphism (notably large ears with overfolded helix) and large testes.

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Spasticity
  • Flexion contracture


SOURCES: ORPHANET OMIM MENDELIAN

More info about X-LINKED INTELLECTUAL DISABILITY-CARDIOMEGALY-CONGESTIVE HEART FAILURE SYNDROME

Mendelian

Too many results?
We can help you with your rare disease diagnosis.

Learn more

Other less relevant matches:

Low match C11ORF73-RELATED AUTOSOMAL RECESSIVE HYPOMYELINATING LEUKODYSTROPHY


Hypomyelinating leukodystrophy-13 is an autosomal recessive neurodegenerative disorder characterized by infantile onset of delayed psychomotor development, axial hypotonia, and spasticity associated with delayed myelination and periventricular white matter abnormalities on brain imaging. More variable neurologic deficits, such as visual impairment, may also occur. Some patients may experience cardiac failure during acute illness (summary by Edvardson et al., 2016).For a general phenotypic description and a discussion of genetic heterogeneity of HLD, see {312080}.

C11ORF73-RELATED AUTOSOMAL RECESSIVE HYPOMYELINATING LEUKODYSTROPHY Is also known as c11orf73-related autosomal recessive hypomyelinating leukoencephalopathy|hypomyelinating leukodystrophy due to hikeshi deficiency

Related symptoms:

  • Global developmental delay
  • Generalized hypotonia
  • Ataxia
  • Nystagmus
  • Failure to thrive


SOURCES: ORPHANET OMIM MENDELIAN

More info about C11ORF73-RELATED AUTOSOMAL RECESSIVE HYPOMYELINATING LEUKODYSTROPHY

Low 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

Low 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

Low 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

Low match MITOCHONDRIAL HYPERTROPHIC CARDIOMYOPATHY WITH LACTIC ACIDOSIS DUE TO MTO1 DEFICIENCY


Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency is a rare mitochondrial oxidative phosphorylation disorder with complex I and IV deficiency characterized by lactic acidosis, hypotonia, hypertrophic cardiomyopathy and global developmental delay. Other clinical features include feeding difficulties, failure to thrive, seizures, optic atrophy and ataxia.

MITOCHONDRIAL HYPERTROPHIC CARDIOMYOPATHY WITH LACTIC ACIDOSIS DUE TO MTO1 DEFICIENCY Is also known as cardiomyopathy, infantile hypertrophic mitochondrial, and lactic acidosis|coxpd10|combined oxidative phosphorylation defect type 10

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Ataxia


SOURCES: ORPHANET OMIM MENDELIAN

More info about MITOCHONDRIAL HYPERTROPHIC CARDIOMYOPATHY WITH LACTIC ACIDOSIS DUE TO MTO1 DEFICIENCY

Low match PHOSPHOENOLPYRUVATE CARBOXYKINASE DEFICIENCY


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

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

Symptoms // Phenotype % cases
Ataxia Common - Between 50% and 80% cases
Dysarthria Common - Between 50% and 80% cases
Global developmental delay Uncommon - Between 30% and 50% cases
Spasticity Uncommon - Between 30% and 50% cases
Failure to thrive Uncommon - Between 30% and 50% cases
Mendelian

Accelerate your rare disease diagnosis with us

Learn more

Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Intellectual disability Dysphagia Motor delay Generalized hypotonia Muscle weakness Feeding difficulties Rigidity Flexion contracture Seizures Chorea Dystonia Hypertonia Cardiomyopathy Hyperreflexia Cognitive impairment Gait disturbance Babinski sign

Rare Symptoms - Less than 30% cases


Cardiomegaly Encephalopathy Dysmetria Hepatomegaly Respiratory distress Dementia Cerebral atrophy Absent speech Respiratory insufficiency Orofacial dyskinesia Skeletal muscle atrophy Hypertrophic cardiomyopathy Poor speech Acidosis Hypoglycemia Increased serum lactate Clonus Hyperalaninemia Muscular hypotonia Lactic acidosis Leukodystrophy Tremor Arrhythmia Nystagmus Difficulty walking Muscular hypotonia of the trunk Metabolic acidosis Optic atrophy Neuronal loss in central nervous system Involuntary movements Ventricular hypertrophy Left ventricular hypertrophy Parkinsonism Chronic metabolic acidosis Neurodegeneration Abnormality of extrapyramidal motor function Type I diabetes mellitus Memory impairment Renal tubular acidosis Cirrhosis Limited neck flexion Scapular winging Dysphonia Back pain Skeletal muscle hypertrophy Spinal rigidity Rimmed vacuoles Limb-girdle muscle weakness Axial muscle weakness Stiff neck Scapuloperoneal weakness Hip flexor weakness Congenital lactic acidosis Anemia Delayed speech and language development Fatigue Behavioral abnormality Depressivity Diabetes mellitus Gait ataxia Hypothyroidism Cerebral palsy Confusion Retinal degeneration Torticollis Decreased serum iron Hyperkinesis Renal insufficiency Necrotizing encephalopathy Increased head circumference Proximal renal tubular acidosis Severe lactic acidosis Decreased activity of mitochondrial respiratory chain Macrocephaly Intellectual disability, severe Vomiting Pneumonia Sinus bradycardia Tachypnea Hyperammonemia CNS hypomyelination Athetosis Cystinuria Increased serum pyruvate Dysgraphia Periventricular leukomalacia Periventricular cysts Wolff-Parkinson-White syndrome Slurred speech Elevated hepatic iron concentration Polyuria Muscle fibrillation Increased serum ferritin Blepharospasm Cogwheel rigidity Scanning speech Refractory anemia Decreased serum ceruloplasmin Ketoacidosis Ketonuria Aceruloplasminemia Growth delay Small for gestational age Tachycardia Ascites Bradycardia Infantile muscular hypotonia Pleural effusion Aspiration pneumonia Muscular dystrophy Mental deterioration Proximal muscle weakness Aortic valve stenosis Facial myokymia Hydrocephalus Macrotia Kyphoscoliosis Tetraplegia Spastic tetraplegia Intellectual disability, profound Atrial fibrillation Multiple joint contractures Myokymia Macroorchidism Abnormality of the thumb Atrial flutter Venous insufficiency Contractures of the large joints Sclerotic vertebral endplates Edema Cerebral cortical atrophy Aggressive behavior Paroxysmal dyskinesia Limb hypertonia Respiratory insufficiency due to muscle weakness Positive Romberg sign Areflexia Hyporeflexia Falls Distal sensory impairment Abnormal cerebellum morphology Gliosis Peripheral demyelination Sensory ataxia Distal sensory loss of all modalities Resting tremor Distal sensory impairment of all modalities Gait instability, worse in the dark Myoclonus Anxiety Dilated cardiomyopathy Abnormality of movement Dyskinesia Choreoathetosis Delayed gross motor development Stereotypy Apathy Respiratory failure Restless legs Neonatal hypotonia Ophthalmoplegia Sensory impairment Psychosis Macular degeneration Cone/cone-rod dystrophy Dysdiadochokinesis Ophthalmoparesis Hemeralopia Reduced visual acuity Abnormal fundus morphology Scoliosis Pain Ptosis Hypertension Short neck Myopathy Dilatation Elevated serum creatine phosphokinase Photophobia Visual loss Personality changes Pulmonary edema Emotional lability Amyotrophic lateral sclerosis Agitation Global brain atrophy Insomnia Frontotemporal dementia Abnormal lower motor neuron morphology Supranuclear gaze palsy Disinhibition Cerebellar atrophy Primitive reflex Perseveration Bulimia Semantic dementia Visual impairment Abnormality of the cerebral white matter Delayed myelination Abnormality of the periventricular white matter Blindness Neuronal loss in the cerebral cortex



If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Melanoma and Acute myeloid leukemia, related diseases and genetic alterations Myopia and Myocardial infarction, related diseases and genetic alterations

Need help with a diagnosis?

Learn more about how to achieve it with Mendelian


Learn more