Congestive heart failure, and Dystonia

Diseases related with Congestive heart failure and Dystonia

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


Top matches:

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 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

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Other less relevant matches:

Low match TRIOSE PHOSPHATE-ISOMERASE DEFICIENCY


Triosephosphate isomerase (TPI) deficiency is a severe autosomal recessive inherited multisystem disorder of glycolytic metabolism characterized by hemolytic anemia and neurodegeneration.

Related symptoms:

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Muscle weakness
  • Muscular hypotonia


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about TRIOSE PHOSPHATE-ISOMERASE DEFICIENCY

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 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 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 ISOLATED SUCCINATE-COQ REDUCTASE DEFICIENCY


Mitochondrial complex II deficiency is an autosomal recessive disorder with a highly variable phenotype. Some patients have multisystem involvement of the brain, heart, muscle, liver, and kidneys resulting in death in infancy, whereas others have only isolated cardiac or muscle involvement with onset in adulthood and normal cognition. Measurement of complex II activity in muscle is the most reliable means of diagnosis; however, there is no clear correlation between residual complex II activity and severity or clinical outcome. In some cases, treatment with riboflavin may have clinical benefit (summary by Jain-Ghai et al., 2013).

ISOLATED SUCCINATE-COQ REDUCTASE DEFICIENCY Is also known as isolated succinate-ubiquinone reductase deficiency|isolated succinate-coenzyme q reductase deficiency|isolated mitochondrial respiratory chain complex ii deficiency|succinate coq reductase deficiency

Related symptoms:

  • Seizures
  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Microcephaly


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about ISOLATED SUCCINATE-COQ REDUCTASE DEFICIENCY

Low match FRIEDREICH ATAXIA


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 Dystonia

Symptoms // Phenotype % cases
Cardiomyopathy Common - Between 50% and 80% cases
Muscle weakness Common - Between 50% and 80% cases
Babinski sign Uncommon - Between 30% and 50% cases
Chorea Uncommon - Between 30% and 50% cases
Cognitive impairment Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Dysarthria Spasticity Ataxia Involuntary movements Arrhythmia Seizures Peripheral neuropathy Areflexia Myopathy Gait disturbance Hypertrophic cardiomyopathy Depressivity Dysphagia Dementia Optic atrophy Fatigue Dilated cardiomyopathy Sensory axonal neuropathy Short stature Hypertonia Tremor Generalized hypotonia Motor delay Global developmental delay Intellectual disability Abnormal pyramidal sign Skeletal muscle atrophy Respiratory failure Neurodegeneration Limb muscle weakness Neuronal loss in central nervous system Elevated serum creatine phosphokinase Sensory neuropathy Urinary bladder sphincter dysfunction Slurred speech Nystagmus Abnormality of movement Anxiety Anemia Behavioral abnormality Hyperreflexia Respiratory distress Gait ataxia Dyskinesia Difficulty walking

Rare Symptoms - Less than 30% cases


Orofacial dyskinesia Kyphosis Motor axonal neuropathy Scoliosis Visual impairment Ptosis Cerebral atrophy Progressive muscle weakness Ketosis Hyporeflexia Intention tremor Optic disc pallor Respiratory tract infection Hemolytic anemia Unsteady gait Pallor Choreoathetosis Truncal ataxia Cerebellar atrophy Emotional lability Lower limb muscle weakness Paresthesia Atrial fibrillation Gait imbalance Impaired proprioception Left ventricular hypertrophy Ventricular arrhythmia Decreased motor nerve conduction velocity Rhabdomyolysis Pes cavus Sensorimotor neuropathy Limb ataxia Peripheral demyelination Sensory impairment Progressive cerebellar ataxia Distal amyotrophy Peripheral axonal neuropathy Abnormality of the foot Distal muscle weakness Splenomegaly Myoclonus Muscular hypotonia Proximal muscle weakness Growth delay Failure to thrive Hepatomegaly Diabetes mellitus Acidosis Lactic acidosis Tachycardia Poor speech Increased serum lactate Cerebral cortical atrophy Abnormality of extrapyramidal motor function Memory impairment Confusion Ketonuria Parkinsonism Rigidity Mitral regurgitation Retinopathy Limb-girdle muscular dystrophy Oral-pharyngeal dysphagia Easy fatigability Diarrhea Absent speech Neonatal hypotonia Ragged-red muscle fibers Back pain Leukoencephalopathy Increased susceptibility to fractures Elevated alkaline phosphatase Developmental regression External ophthalmoplegia Abnormality of pelvic girdle bone morphology Osteolysis Ophthalmoplegia Mutism Tetraparesis EMG: myopathic abnormalities Generalized muscle weakness Generalized myoclonic seizures Scapular winging Pigmentary retinopathy Language impairment Fasciculations Congenital hip dislocation Leukodystrophy Spastic tetraplegia Exercise intolerance Tetraplegia Upper motor neuron dysfunction Spinal muscular atrophy Frontotemporal dementia Pathologic fracture Abnormality of the vertebral column Cranial nerve compression Calvarial hyperostosis Motor neuron atrophy Fatty replacement of skeletal muscle Rimmed vacuoles Dyscalculia Difficulty climbing stairs Progressive proximal muscle weakness EMG: neuropathic changes Abnormality of calvarial morphology EMG: chronic denervation signs Shoulder girdle muscle weakness Shoulder girdle muscle atrophy Hip pain Pelvic girdle muscle atrophy Generalized amyotrophy Increased variability in muscle fiber diameter Weakness of muscles of respiration Pelvic girdle muscle weakness Alzheimer disease Vomiting Blindness Flexion contracture Amyotrophic lateral sclerosis Microcephaly Abnormal motor neuron morphology Elevated alkaline phosphatase of bone origin Ubiquitin-positive cerebral inclusion bodies Temporal cortical atrophy Pelvic girdle amyotrophy Abnormality of long bone morphology Semantic dementia Scapuloperoneal weakness Aphasia Dysphasia Frontal cortical atrophy Cervical spinal cord atrophy Preeclampsia Abnormal EKG Spinocerebellar tract degeneration Hyposmia Areflexia of lower limbs Myocardial fibrosis Increased reactive oxygen species production Ketoacidosis Heart block Abnormality of visual evoked potentials Thoracic scoliosis Subvalvular aortic stenosis Decreased pyruvate carboxylase activity Abnormality of the dentate nucleus Temporal optic disc pallor Optic neuropathy Palmar hyperhidrosis Hyperactive deep tendon reflexes Spinal cord posterior columns myelin loss Visual field defect Asymmetric septal hypertrophy T-wave inversion Structural foot deformity Decreased sensory nerve conduction velocity 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 Diabetic ketoacidosis Reduced systolic function Poor fine motor coordination Hand muscle atrophy Sinus tachycardia Abnormal saccadic eye movements Abnormality of cardiovascular system physiology Positive Romberg sign Mitochondrial malic enzyme reduced Lower limb amyotrophy Abnormal echocardiogram Abolished vibration sense Glucose intolerance Left ventricular noncompaction Pain Dysmetria Abnormality of eye movement Pes planus Kyphoscoliosis Reduced visual acuity Hyperactivity Visual loss Talipes equinovarus Hearing impairment Vertigo Stress/infection-induced lactic acidosis Left ventricular systolic dysfunction Abnormal mitochondria in muscle tissue Decreased activity of mitochondrial complex II Progressive leukoencephalopathy Increased intramyocellular lipid droplets Hemolytic-uremic syndrome Paraganglioma Muscular subvalvular aortic stenosis Falls Hammertoe Insulin resistance Impaired vibratory sensation Dysdiadochokinesis Cachexia Incoordination Reduced tendon reflexes Spastic paraparesis Paraparesis Muscle stiffness Spastic gait Inability to walk Lower limb spasticity Clumsiness Palpitations Waddling gait Ventricular hypertrophy Chest pain Impaired visually enhanced vestibulo-ocular reflex Abnormal cerebellum morphology Lumbar hyperlordosis Personality disorder Brain atrophy Abnormality of immune system physiology Chronic hemolytic anemia Abnormal posturing Normochromic anemia Nonspherocytic hemolytic anemia Cholecystitis Normocytic anemia Diaphragmatic paralysis Macrocytic anemia Central nervous system degeneration Cholelithiasis Decreased nerve conduction velocity Respiratory insufficiency due to muscle weakness Oligohydramnios Jaundice Recurrent respiratory infections Recurrent infections Congenital hemolytic anemia Strabismus Hyperalaninemia Increased antibody level in blood Saccadic smooth pursuit Decreased number of large peripheral myelinated nerve fibers Head tremor Impaired smooth pursuit Progressive gait ataxia Cerebellar vermis atrophy Gaze-evoked nystagmus Postural tremor Distal sensory impairment Premature ovarian insufficiency Hypoalbuminemia Hypercholesterolemia Oculomotor apraxia Diplopia Telangiectasia Apraxia Polyneuropathy Decreased activity of mitochondrial respiratory chain Severe lactic acidosis Pontocerebellar atrophy Retinal degeneration Muscle fibrillation Polyuria Hyperkinesis Cerebral palsy Torticollis Type I diabetes mellitus Cirrhosis Hypothyroidism Blepharospasm Delayed speech and language development Facial myokymia Paroxysmal dyskinesia Myokymia Limb hypertonia Resting tremor Delayed gross motor development Muscular hypotonia of the trunk Increased serum ferritin Cogwheel rigidity Sinus bradycardia Metabolic acidosis Wolff-Parkinson-White syndrome Aspiration pneumonia Pleural effusion Infantile muscular hypotonia Bradycardia Cardiomegaly Ascites Small for gestational age Scanning speech Hypoglycemia Encephalopathy Feeding difficulties Aceruloplasminemia Decreased serum iron Elevated hepatic iron concentration Decreased serum ceruloplasmin Refractory anemia Conjunctival telangiectasia Elevated alpha-fetoprotein Hepatic steatosis Hypocalcemia Basal ganglia calcification Hypokalemia Hypercalciuria Reduced bone mineral density Increased intracranial pressure Abnormality of the fingernails Nephrocalcinosis EMG abnormality Irregular hyperpigmentation Abnormality of the nail Nephrolithiasis Eczema Hypotension Muscle cramps Dry skin Abdominal pain Fatigable weakness Hypoparathyroidism Abnormality of the astrocytes Laryngospasm Muscular dystrophy Hyperlordosis Facial palsy Dilatation Ventriculomegaly Cataract Hypermagnesiuria Cortical myoclonus Hypomagnesemia Hypocalcemic seizures Writer's cramp Increased circulating renin level Abnormal pattern of respiration Abnormal renal physiology Tetany Reduced consciousness/confusion Hyperphosphatemia Alopecia Hyporeflexia of upper limbs Impaired distal vibration sensation Generalized-onset seizure Bowel incontinence Ventricular fibrillation Personality changes Obsessive-compulsive behavior Sleep apnea Cardiac arrest Hallucinations Abnormality of the cerebral white matter Impaired pain sensation Mental deterioration Elevated hepatic transaminase Hepatosplenomegaly Dyspnea Hyperhidrosis Impaired distal tactile sensation Chronic axonal neuropathy Diffuse cerebellar atrophy Impaired vibration sensation in the lower limbs Restlessness Abnormal facial expression Generalized limb muscle atrophy Blood group antigen abnormality Recurrent singultus Abnormal corpus striatum morphology Caudate atrophy Abnormal lactate dehydrogenase activity Abnormal social behavior Impaired temperature sensation Increased muscle fatiguability Insomnia Hyporeflexia of lower limbs Excessive salivation Tics Acanthocytosis Supraventricular tachycardia Left bundle branch block Ventricular extrasystoles Bipolar affective disorder Atrophic superior cerebellar peduncle



If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Intrauterine growth retardation and Craniosynostosis, related diseases and genetic alterations Dysarthria and Congenital cataract, related diseases and genetic alterations

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