Cardiomyopathy, and Chorea

Diseases related with Cardiomyopathy and Chorea

In the following list you will find some of the most common rare diseases related to Cardiomyopathy and Chorea that can help you solving undiagnosed cases.


Top matches:

Medium 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

Medium match 3-METHYLGLUTACONIC ACIDURIA TYPE 3


3-methylglutaconic aciduria type III (MGA III) is an organic aciduria characterised by the association of optic atrophy and choreoathetosis with 3-methylglutaconic aciduria.

3-METHYLGLUTACONIC ACIDURIA TYPE 3 Is also known as optic atrophy, infantile, with chorea and spastic paraplegia|mga3|iraqi-jewish 'optic atrophy plus'|opa3, autosomal recessive|costeff syndrome|autosomal recessive optic atrophy type 3|optic atrophy 3, autosomal recessive|optic atrophy plus syndrome|autoso

Related symptoms:

  • Intellectual disability
  • Short stature
  • Ataxia
  • Nystagmus
  • Spasticity


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about 3-METHYLGLUTACONIC ACIDURIA TYPE 3

Medium match PROXIMAL MYOPATHY WITH EXTRAPYRAMIDAL SIGNS


Proximal myopathy with extrapyramidal signs is a rare, hereditary non-dystrophic myopathy characterized by proximal muscle weakness, delayed motor development, learning difficulties, and progressive extrapyramidal motor signs including chorea, dystonia and tremor. Variable additional features have been reported - ataxia, microcephaly, ophthalmoplegia, ptosis, and optic atrophy.

Related symptoms:

  • Global developmental delay
  • Hearing impairment
  • Microcephaly
  • Ataxia
  • Muscle weakness


SOURCES: ORPHANET OMIM MENDELIAN

More info about PROXIMAL MYOPATHY WITH EXTRAPYRAMIDAL SIGNS

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Other less relevant matches:

Medium match MCLEOD SYNDROME; MCLDS


Hematologically, McLeod syndrome is characterized by the absence of red blood cell Kx antigen, weak expression of Kell red blood cell antigens, acanthocytosis, and compensated hemolysis. Most carriers of this McLeod blood group phenotype have acanthocytosis and elevated serum creatine kinase levels and are prone to develop a severe neurologic disorder resembling Huntington disease (OMIM ). Onset of neurologic symptoms ranges between 25 and 60 years (mean onset 30-40 years), and penetrance appears to be high. Additional symptoms include generalized seizures, neuromuscular symptoms leading to weakness and atrophy, and cardiomyopathy mainly manifesting with atrial fibrillation, malignant arrhythmias, and dilated cardiomyopathy (summary by Jung et al., 2007).The cooccurrence of McLeod syndrome and chronic granulomatous disease (CGD ) results from a contiguous gene deletion (Francke et al., 1985).

MCLEOD SYNDROME; MCLDS Is also known as mcleod phenotype|neuroacanthocytosis, mcleod type

Related symptoms:

  • Seizures
  • Muscle weakness
  • Cognitive impairment
  • Anemia
  • Peripheral neuropathy


SOURCES: MESH OMIM MENDELIAN

More info about MCLEOD SYNDROME; MCLDS

Medium match VITAMIN B12-UNRESPONSIVE METHYLMALONIC ACIDEMIA TYPE MUT-


Vitamin B12-unresponsive methylmalonic acidemia type mut- is an inborn error of metabolism characterized by recurrent ketoacidotic comas or transient vomiting, dehydration, hypotonia and intellectual deficit, which does not respond to administration of vitamin B12.

VITAMIN B12-UNRESPONSIVE METHYLMALONIC ACIDEMIA TYPE MUT- Is also known as vitamin b12-unresponsive methylmalonic aciduria type mut-|partial deficiency of methylmalonyl-coa mutase

Related symptoms:

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


SOURCES: ORPHANET MENDELIAN

More info about VITAMIN B12-UNRESPONSIVE METHYLMALONIC ACIDEMIA TYPE MUT-

Medium match HSD10 MITOCHONDRIAL DISEASE; HSD10MD


HSD10 mitochondrial disease most commonly presents as an X-linked neurodegenerative disorder with highly variable severity and age at onset ranging from the neonatal period to early childhood. The features are usually multisystemic, consistent with mitochondrial dysfunction. Some affected males have a severe infantile form associated with cardiomyopathy that may result in death in early childhood, whereas other rare patients may have juvenile onset or even atypical presentations with normal neurologic development. More severely affected males show developmental regression in infancy or early childhood, often associated with early-onset intractable seizures, progressive choreoathetosis and spastic tetraplegia, optic atrophy or retinal degeneration resulting in visual loss, and mental retardation. Heterozygous females may show non-progressive developmental delay and intellectual disability, but may also be clinically normal. Although the diagnosis can be aided by the observation of increased urinary levels of metabolites of isoleucine breakdown (2-methyl-3 hydroxybutyrate and tiglylglycine), there is not a correlation between these laboratory features and the phenotype. In addition, patients do not develop severe metabolic crises in the neonatal period as observed in other organic acidurias, but may show persistent lactic acidosis, most likely reflecting mitochondrial dysfunction (summary by Rauschenberger et al., 2010; review by Zschocke, 2012).In a review of the disorder, Zschocke (2012) noted that although this disorder was originally thought to be an inborn error of branched-chain fatty acid and isoleucine metabolism resulting from decreased HSD17B10 dehydrogenase activity (HSD17B10 'deficiency'), subsequent studies have shown that the HSD17B10 gene product has additional functions and also acts as a component of the mitochondrial RNase P holoenzyme, which is involved in mitochondrial tRNA processing and maturation and ultimately mitochondrial protein synthesis. The multisystemic features of HSD10MD most likely result from the adverse effect of HSD17B10 mutations on mitochondrial function, rather than from the effects on the dehydrogenase activity (see PATHOGENESIS below).

HSD10 MITOCHONDRIAL DISEASE; HSD10MD Is also known as hsd17b10 deficiency|mhbd deficiency|2-methyl-3-hydroxybutyryl-coa dehydrogenase deficiency|camr|mental retardation with chorioathetosis and abnormal behavior|mental retardation, x-linked, syndromic 10|17-beta-hydroxysteroid dehydrogenase x deficiency|chor

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Hearing impairment


SOURCES: ORPHANET OMIM MENDELIAN

More info about HSD10 MITOCHONDRIAL DISEASE; HSD10MD

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

Medium match 3-METHYLGLUTACONIC ACIDURIA TYPE 7


3-Methylglutaconic aciduria with cataracts, neurologic involvement, and neutropenia (MEGCANN) is an autosomal recessive inborn error of metabolism characterized primarily by increased levels of 3-methylglutaconic acid (3-MGA) associated with neurologic deterioration and neutropenia. The phenotype is highly variable: most patients have infantile onset of a progressive encephalopathy with various movement abnormalities and delayed psychomotor development, although rare patients with normal neurologic development have been reported. Other common, but variable, features include cataracts, seizures, and recurrent infections (summary by Wortmann et al., 2015 and Saunders et al., 2015).For a general phenotypic description and a discussion of genetic heterogeneity of 3-methylglutaconic aciduria, see MGCA1 (OMIM ).

3-METHYLGLUTACONIC ACIDURIA TYPE 7 Is also known as 3-methylglutaconic aciduria-cataract-neurologic involvement-neutropenia syndrome|mga7|mgca7|3-methylglutaconic aciduria, type vii

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about 3-METHYLGLUTACONIC ACIDURIA TYPE 7

Low match METHYLMALONIC ACIDURIA DUE TO METHYLMALONYL-COA MUTASE DEFICIENCY


Methylmalonic aciduria is a genetically heterogeneous disorder of methylmalonate and cobalamin (cbl; vitamin B12) metabolism. Isolated methylmalonic aciduria is found in patients with mutations in the MUT gene causing partial, mut(-), or complete, mut(0), enzyme deficiency. This form is unresponsive to B12 therapy. Various forms of isolated methylmalonic aciduria also occur in a subset of patients with defects in the synthesis of the MUT coenzyme adenosylcobalamin (AdoCbl) and are classified according to complementation group: cblA (OMIM ), caused by mutation in the MMAA gene (OMIM ) on chromosome 4q31, and cblB (OMIM ), caused by mutation in the MMAB gene (OMIM ) on 12q24.Combined methylmalonic aciduria and homocystinuria may be seen in complementation groups cblC (OMIM ), cblD (OMIM ), and cblF (OMIM ).See the comprehensive review of Ledley (1990).

METHYLMALONIC ACIDURIA DUE TO METHYLMALONYL-COA MUTASE DEFICIENCY Is also known as methylmalonic acidemia due to methylmalonyl-coa mutase deficiency mma due to mcm deficiency|methylmalonic aciduria, mut type

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about METHYLMALONIC ACIDURIA DUE TO METHYLMALONYL-COA MUTASE DEFICIENCY

Low match NARP SYNDROME


Neuropathy, Ataxia, and Retinitis Pigmentosa (NARP) syndrome is a clinically heterogeneous progressive condition characterized by a combination of proximal neurogenic muscle weakness, sensory-motor neuropathy, ataxia, and pigmentary retinopathy.

NARP SYNDROME Is also known as neuropathy-ataxia-retinitis pigmentosa syndrome|neurogenic muscle weakness-ataxia-retinitis pigmentosa syndrome|narp syndrome

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Generalized hypotonia


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about NARP SYNDROME

Top 5 symptoms//phenotypes associated to Cardiomyopathy and Chorea

Symptoms // Phenotype % cases
Dystonia Very Common - Between 80% and 100% cases
Seizures Common - Between 50% and 80% cases
Intellectual disability Common - Between 50% and 80% cases
Dysarthria Common - Between 50% and 80% cases
Optic atrophy Common - Between 50% and 80% cases
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Other less frequent symptoms

Patients with Cardiomyopathy and Chorea. may also develop some of the following symptoms:

Common Symptoms - More than 50% cases


Choreoathetosis

Uncommon Symptoms - Between 30% and 50% cases


Global developmental delay

Common Symptoms - More than 50% cases


Abnormality of movement

Uncommon Symptoms - Between 30% and 50% cases


Ataxia Myopathy Generalized hypotonia Cognitive impairment Muscle weakness Peripheral neuropathy Dysphagia Aciduria Involuntary movements Dyskinesia Tremor Anemia Anxiety Hepatomegaly Myoclonus Rigidity Restlessness Acidosis Arrhythmia Failure to thrive Hearing impairment Muscular hypotonia Splenomegaly Respiratory distress Elevated serum creatine phosphokinase Encephalopathy Cerebral atrophy Dehydration Developmental regression Abnormality of extrapyramidal motor function Neutropenia Short stature Dilated cardiomyopathy Gait ataxia Babinski sign Orofacial dyskinesia Spasticity Nystagmus

Rare Symptoms - Less than 30% cases


Immunodeficiency Renal insufficiency Dementia Dyspnea Vomiting Feeding difficulties Paresthesia Stroke Sensory neuropathy Neuronal loss in central nervous system Sensory axonal neuropathy Tics Acanthocytosis Motor axonal neuropathy Rhabdomyolysis Thrombocytopenia Mitochondrial myopathy Lethargy Visual loss Atrial fibrillation Lactic acidosis Hypertrophic cardiomyopathy Neurodegeneration Metabolic acidosis Tetraparesis Cerebral cortical atrophy Progressive neurologic deterioration Nausea and vomiting Hallucinations Blindness Spastic tetraparesis Hyperammonemia Pancreatitis Neurological speech impairment Coma Obsessive-compulsive behavior Personality disorder Congestive heart failure Motor delay Horizontal nystagmus Abnormal basal ganglia MRI signal intensity Difficulty walking Ophthalmoplegia Behavioral abnormality Depressivity Gait disturbance Hypertonia 3-Methylglutaconic aciduria Areflexia Visual impairment Hepatosplenomegaly Generalized-onset seizure Microcephaly Resting tremor Proximal muscle weakness Hyperreflexia Paraparesis Fatigue Fever Respiratory insufficiency Irritability Diabetes mellitus Abnormal visual field test Stage 5 chronic kidney disease Abnormal mitochondria in muscle tissue Nephropathy Postural instability Pancytopenia Leukopenia Ischemic stroke Abnormality of the kidney Dyslexia Congenital neutropenia Neonatal hypotonia Abnormality of the astrocytes Growth delay Abnormal facial shape Cataract Flexion contracture Cerebellar atrophy Recurrent infections Hyperactivity Respiratory failure Hypothyroidism Abnormal pyramidal sign Dysgraphia Attention deficit hyperactivity disorder Leukemia Gliosis Brain atrophy Increased serum lactate Myelodysplasia Opisthotonus Myeloid leukemia Acute myeloid leukemia Progressive encephalopathy Upper motor neuron dysfunction Macrocytic anemia Myoclonic spasms Tubulointerstitial nephritis Nyctalopia Hyperkinesis External ophthalmoplegia Optic disc pallor Pigmentary retinopathy Strabismus Overgrowth Generalized muscle weakness Muscle cramps Pain Metabolic ketoacidosis Ventriculomegaly Abnormal facial expression Retinopathy Intellectual disability, severe Paralysis Headache Pallor Rod-cone dystrophy Apnea Poor suck Oral-pharyngeal dysphagia Ketonuria Progressive gait ataxia Delayed CNS myelination Necrotizing encephalopathy Retinal arteriolar tortuosity Retinal pigment epithelial mottling Organic aciduria Methylmalonic aciduria Breathing dysregulation Asymmetric septal hypertrophy Homocystinuria Hyperglycinemia Constriction of peripheral visual field Heart block Methylmalonic acidemia Progressive external ophthalmoplegia Tubulointerstitial abnormality Abnormal globus pallidus morphology Hyperventilation Infantile spasms Cerebellar hemorrhage Chronic metabolic acidosis Hyporeflexia of upper limbs Drooling Blood group antigen abnormality Aspiration pneumonia Skeletal muscle atrophy Pneumonia Muscular dystrophy Ichthyosis Cardiomegaly Aspiration EMG abnormality Abnormality of the musculature Abetalipoproteinemia Progressive extrapyramidal muscular rigidity Phonic tics Abdominal pain Anorexia Sensorineural hearing impairment Delayed speech and language development Intellectual disability, mild Absent speech Hypoglycemia Aggressive behavior Central core regions in muscle fibers Progressive extrapyramidal movement disorder Tetraplegia Paraplegia Muscular hypotonia of the trunk Delayed gross motor development Limb hypertonia Myokymia Paroxysmal dyskinesia Facial myokymia Reduced visual acuity Spastic paraplegia Spastic paraparesis Abnormal posturing Ptosis Peripheral axonal neuropathy Specific learning disability Stereotypy Increased variability in muscle fiber diameter Mildly elevated creatine phosphokinase Centrally nucleated skeletal muscle fibers Difficulty running Insulin-resistant diabetes mellitus Retinal degeneration Spastic tetraplegia Recurrent singultus Left bundle branch block Emotional lability Ventricular fibrillation Bowel incontinence Impaired vibration sensation in the lower limbs Impaired pain sensation Insomnia Bipolar affective disorder Ventricular extrasystoles Supraventricular tachycardia Ventricular arrhythmia Excessive salivation Hyporeflexia of lower limbs Increased muscle fatiguability Generalized limb muscle atrophy Impaired temperature sensation Abnormal social behavior Abnormal lactate dehydrogenase activity Caudate atrophy Abnormal corpus striatum morphology Personality changes Sleep apnea Abnormality of mitochondrial metabolism Hyperhidrosis Athetosis Agitation Diffuse cerebral atrophy Gastrointestinal dysmotility Loss of ability to walk Abnormal mitochondrial morphology Persistent lactic acidosis Progressive choreoathetosis Elevated hepatic transaminase Cardiac arrest Mental deterioration Abnormality of the cerebral white matter Lower limb muscle weakness Confusion Hemolytic anemia Parkinsonism Memory impairment Left ventricular hypertrophy Sensorimotor neuropathy Corticospinal tract atrophy



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