Cardiomyopathy, and Neurodegeneration

Diseases related with Cardiomyopathy and Neurodegeneration

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


Top matches:

Medium match LEUKOENCEPHALOPATHY, PROGRESSIVE, WITH OVARIAN FAILURE; LKENP


Progressive leukoencephalopathy with ovarian failure is an autosomal recessive neurodegenerative disorder characterized by loss of motor and cognitive skills, usually with onset in young adulthood. Some patients may have a history of delayed motor development or learning difficulties in early childhood. Neurologic decline is severe, usually resulting in gait difficulties, ataxia, spasticity, and cognitive decline and dementia. Most patients lose speech and become wheelchair-bound or bedridden. Brain MRI shows progressive white matter signal abnormalities in the deep white matter. Affected females develop premature ovarian failure (summary by Dallabona et al., 2014).

Related symptoms:

  • Ataxia
  • Nystagmus
  • Spasticity
  • Motor delay
  • Dysarthria


SOURCES: OMIM MENDELIAN

More info about LEUKOENCEPHALOPATHY, PROGRESSIVE, WITH OVARIAN FAILURE; LKENP

Medium match MITOCHONDRIAL SHORT-CHAIN ENOYL-COA HYDRATASE 1 DEFICIENCY; ECHS1D


Mitochondrial short-chain enoyl-CoA hydratase-1 deficiency is an autosomal recessive inborn error of metabolism characterized by severely delayed psychomotor development, neurodegeneration, increased lactic acid, and brain lesions in the basal ganglia (summary by Peters et al., 2014).

Related symptoms:

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Hearing impairment
  • Nystagmus


SOURCES: OMIM MENDELIAN

More info about MITOCHONDRIAL SHORT-CHAIN ENOYL-COA HYDRATASE 1 DEFICIENCY; ECHS1D

Medium match CONGENITAL SIDEROBLASTIC ANEMIA-B-CELL IMMUNODEFICIENCY-PERIODIC FEVER-DEVELOPMENTAL DELAY SYNDROME


Congenital sideroblastic anemia -B cell immunodeficiency- periodic fever-developmental delay syndrome is a form of constitutional sideroblastic anemia (see this term), characterized by severe microcytic anemia, B-cell lymphopenia , panhypogammaglobulinemia and variable neurodegeneration. The disease presents in infancy with recurrent febrile illnesses, gastrointestinal disturbances, developmental delay, seizures, ataxia and sensorineural deafness. Most patients require regular blood transfusion, iron chelation, and intravenous immunoglobulin (IVIG) replacement. Stem cell transplantation has been reported to be successful.

CONGENITAL SIDEROBLASTIC ANEMIA-B-CELL IMMUNODEFICIENCY-PERIODIC FEVER-DEVELOPMENTAL DELAY SYNDROME Is also known as sifd syndrome

Related symptoms:

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Hearing impairment
  • Ataxia


SOURCES: OMIM ORPHANET MENDELIAN

More info about CONGENITAL SIDEROBLASTIC ANEMIA-B-CELL IMMUNODEFICIENCY-PERIODIC FEVER-DEVELOPMENTAL DELAY SYNDROME

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Other less relevant matches:

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 LEIGH SYNDROME; LS


Leigh syndrome is an early-onset progressive neurodegenerative disorder with a characteristic neuropathology consisting of focal, bilateral lesions in one or more areas of the central nervous system, including the brainstem, thalamus, basal ganglia, cerebellum, and spinal cord. The lesions are areas of demyelination, gliosis, necrosis, spongiosis, or capillary proliferation. Clinical symptoms depend on which areas of the central nervous system are involved. The most common underlying cause is a defect in oxidative phosphorylation (Dahl, 1998).Leigh syndrome may be a feature of a deficiency of any of the mitochondrial respiratory chain complexes: complex I deficiency (OMIM ), complex II deficiency (OMIM ), complex III deficiency (OMIM ), complex IV deficiency (cytochrome c oxidase; {220110}), or complex V deficiency (OMIM ).

LEIGH SYNDROME; LS Is also known as necrotizing encephalopathy, infantile subacute, of leigh|sne

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about LEIGH SYNDROME; LS

Medium match CIRRHOSIS-DYSTONIA-POLYCYTHEMIA-HYPERMANGANESEMIA SYNDROME


Hypermanganesemia with dystonia-1 is an autosomal recessive metabolic disorder characterized by increased serum manganese, motor neurodegeneration with extrapyramidal features, polycythemia, and hepatic dysfunction, which leads to cirrhosis in some cases. Intellectual function is preserved (summary by Tuschl et al., 2012 and Quadri et al., 2012). Genetic Heterogeneity of Hypermanganesemia With DystoniaSee also HMNDYT2 (OMIM ), caused by mutation in the SLC39A14 gene (OMIM ) on chromosome 8p21.

CIRRHOSIS-DYSTONIA-POLYCYTHEMIA-HYPERMANGANESEMIA SYNDROME Is also known as hmdpc|hypermanganesemia with dystonia, polycythemia, and cirrhosis

Related symptoms:

  • Microcephaly
  • Ataxia
  • Hypertension
  • Peripheral neuropathy
  • Hepatomegaly


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about CIRRHOSIS-DYSTONIA-POLYCYTHEMIA-HYPERMANGANESEMIA SYNDROME

Medium match RECURRENT METABOLIC ENCEPHALOMYOPATHIC CRISES-RHABDOMYOLYSIS-CARDIAC ARRHYTHMIA-INTELLECTUAL DISABILITY SYNDROME


Recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome is a rare, genetic, neurodegenerative disease characterized by episodic metabolic encephalomyopathic crises (of variable frequency and severity which are frequently precipitated by an acute illness) which manifest with profound muscle weakness, ataxia, seizures, cardiac arrhythmias, rhabdomyolysis with myoglobinuria, elevated plasma creatine kinase, hypoglycemia, lactic acidosis, increased acylcarnitines and a disorientated or comatose state. Global developmental delay, intellectual disability and cortical, pyramidal and cerebellar signs develop with subsequent progressive neurodegeneration causing loss of expressive language and varying degrees of cerebral atrophy.

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about RECURRENT METABOLIC ENCEPHALOMYOPATHIC CRISES-RHABDOMYOLYSIS-CARDIAC ARRHYTHMIA-INTELLECTUAL DISABILITY SYNDROME

Medium match MUCOPOLYSACCHARIDOSIS, TYPE IIIB; MPS3B


Sanfilippo syndrome B is an autosomal recessive lysosomal storage disorder characterized by the accumulation of heparan sulfate. Clinically, patients have progressive neurodegeneration, behavioral problems, mild skeletal changes, and shortened life span. The clinical severity ranges from mild to severe (Chinen et al., 2005).For a phenotypic description and a discussion of genetic heterogeneity of Sanfilippo syndrome, or mucopolysaccharidosis III, see MPS IIIA (OMIM ).

MUCOPOLYSACCHARIDOSIS, TYPE IIIB; MPS3B Is also known as sanfilippo syndrome b|mps iiib|n-acetyl-alpha-d-glucosaminidase deficiency|naglu deficiency

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Hearing impairment
  • Ataxia


SOURCES: OMIM MENDELIAN

More info about MUCOPOLYSACCHARIDOSIS, TYPE IIIB; MPS3B

Medium 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

Medium match 3-METHYLGLUTACONIC ACIDURIA TYPE 1


3-methylglutaconic aciduria (3-MGA) type I is an inborn error of leucine metabolism with a variable clinical phenotype ranging from mildly delayed speech to psychomotor retardation, coma, failure to thrive, metabolic acidosis and dystonia.

3-METHYLGLUTACONIC ACIDURIA TYPE 1 Is also known as 3-methylglutaconyl-coa hydratase deficiency|3mg-coa hydratase deficiency|mga1|3-mg-coa-hydratase deficiency|mga, type i

Related symptoms:

  • Seizures
  • Global developmental delay
  • Short stature
  • Hearing impairment
  • Microcephaly


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about 3-METHYLGLUTACONIC ACIDURIA TYPE 1

Top 5 symptoms//phenotypes associated to Cardiomyopathy and Neurodegeneration

Symptoms // Phenotype % cases
Ataxia Common - Between 50% and 80% cases
Global developmental delay Common - Between 50% and 80% cases
Seizures Common - Between 50% and 80% cases
Dystonia Common - Between 50% and 80% cases
Hearing impairment Common - Between 50% and 80% cases
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Other less frequent symptoms

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

Common Symptoms - More than 50% cases


Dysarthria

Uncommon Symptoms - Between 30% and 50% cases


Generalized hypotonia

Common Symptoms - More than 50% cases


Nystagmus

Uncommon Symptoms - Between 30% and 50% cases


Encephalopathy Gait ataxia Acidosis Cerebral atrophy Spasticity Optic atrophy Lactic acidosis Tremor Intellectual disability Hypertrophic cardiomyopathy Metabolic acidosis Sensorineural hearing impairment Gait disturbance Dementia Failure to thrive Abnormality of movement Spastic tetraplegia Progressive neurologic deterioration Visual loss Cognitive impairment Dysphagia Hypoglycemia Myopathy Developmental regression Increased serum lactate Peripheral neuropathy Hepatomegaly Microcephaly Asymmetric septal hypertrophy

Rare Symptoms - Less than 30% cases


Pigmentary retinopathy Splenomegaly Elevated hepatic transaminase Dysmetria Abnormal basal ganglia MRI signal intensity Limb ataxia Aggressive behavior Rigidity Hyperactivity Paraparesis Confusion Spastic paraparesis Oral-pharyngeal dysphagia Cerebral cortical atrophy Retinal degeneration Chorea Tetraplegia Strabismus Gliosis Ophthalmoplegia Pallor Difficulty walking Truncal ataxia Emotional lability Mitochondrial myopathy Optic disc pallor Athetosis Drooling Arrhythmia Choreoathetosis Short stature Aciduria Hyperreflexia Spastic tetraparesis Muscle weakness Growth delay Progressive gait ataxia Decreased activity of the pyruvate dehydrogenase complex Increased CSF lactate Poor suck Abnormality of eye movement Rod-cone dystrophy Abnormality of the eye Leukoencephalopathy Abnormal cerebellum morphology Apnea Abnormality of the cerebral white matter Cerebellar atrophy Blindness Delayed speech and language development Muscular hypotonia Motor delay Absent speech Hirsutism 3-Methylglutaconic aciduria Coarse facial features Progressive visual loss Joint stiffness Skeletal myopathy Synophrys Coarse hair Short attention span Abnormality of the basal ganglia Sleep disturbance Protuberant abdomen Thickened ribs Heparan sulfate excretion in urine Cardiomegaly Recurrent upper respiratory tract infections Dysostosis multiplex Elevated plasma acylcarnitine levels Nonprogressive cerebellar ataxia Ventricular fibrillation Fatigue Elevated serum creatine phosphokinase Hypothyroidism Hyperchloremic acidosis Tachycardia Nephropathy Clonus Cardiac arrest Ventricular tachycardia Hyperammonemia Testicular dysgenesis Myopathic facies Behavioral abnormality Spastic diplegia Rhabdomyolysis Hyperactive deep tendon reflexes Myoglobinuria Poor coordination Ketonuria Torsade de pointes Prolonged QTc interval Acute rhabdomyolysis Premature pubarche Premature thelarche Diarrhea Ovoid thoracolumbar vertebrae Myoclonic spasms Memory impairment Severe global developmental delay Paraplegia Hyperkinesis Constriction of peripheral visual field Spastic paraplegia Sensory axonal neuropathy Abnormality of divalent inorganic cation homeostasis Infantile spasms Hyperventilation Dilated cardiomyopathy Progressive external ophthalmoplegia Heart block Involuntary movements Gastroesophageal reflux Recurrent infections Cataract Corticospinal tract atrophy Abnormal visual field test Abnormal mitochondria in muscle tissue Breathing dysregulation Necrotizing encephalopathy Retinal arteriolar tortuosity Retinal pigment epithelial mottling External ophthalmoplegia Overgrowth Dense calvaria Babinski sign Febrile seizures Urinary incontinence Pain Visual impairment Respiratory distress Intellectual disability, severe Progressive cerebellar ataxia Coma Vomiting Headache Dyspnea Generalized muscle weakness Proximal muscle weakness Neutropenia Anxiety Irritability Paralysis Retinopathy Nyctalopia Paresthesia Unsteady gait Sensory neuropathy Muscle cramps Ventriculomegaly Hepatic steatosis Abnormal transferrin saturation Diffuse cerebral atrophy Intellectual disability, mild Myoclonus Neurological speech impairment Dehydration Tetraparesis Hallucinations Horizontal nystagmus Abnormality of mitochondrial metabolism Agitation Restlessness Gastrointestinal dysmotility Sideroblastic anemia Loss of ability to walk Abnormal mitochondrial morphology Persistent lactic acidosis Progressive choreoathetosis Abnormal facial shape Ptosis Skeletal muscle atrophy Respiratory insufficiency Respiratory failure Muscular hypotonia of the trunk Peripheral demyelination Schistocytosis Hypochromic microcytic anemia Leukodystrophy Progressive leukoencephalopathy Depressivity Mental deterioration Amenorrhea Apraxia Ragged-red muscle fibers Premature ovarian insufficiency Secondary amenorrhea Congenital nystagmus Loss of speech Periventricular leukomalacia Ventricular septal defect Anemia of inadequate production Hypoplasia of the corpus callosum Vertical nystagmus Anemia Congestive heart failure Immunodeficiency Decreased antibody level in blood Lymphopenia Nephrocalcinosis Aminoaciduria Brittle hair Microcytic anemia Hypertrichosis Incoordination Copper accumulation in liver Prolonged prothrombin time Abnormality of coagulation Axonal loss Polycythemia Limb dystonia Generalized dystonia Action tremor Hypomimic face Echolalia Esophageal varix Astrocytosis Poor fine motor coordination Toe walking Abnormal myelination Hyperglycinemia Hepatic encephalopathy Micronodular cirrhosis Unconjugated hyperbilirubinemia Vitamin E deficiency Abnormal globus pallidus morphology Abnormality of amino acid metabolism Pica Decreased serum ferritin Increased total iron binding capacity Steppage gait Portal hypertension Failure to thrive in infancy Abnormality of the liver CNS demyelination Abnormal pattern of respiration Respiratory arrest Hepatocellular necrosis Mitochondrial respiratory chain defects Episodic metabolic acidosis Hypertension Hypertonia Pneumonia Jaundice Lower limb muscle weakness Dysdiadochokinesis Cirrhosis Polyneuropathy Postural instability Parkinsonism Gastrointestinal hemorrhage Neuronal loss in central nervous system Bradykinesia Abnormality of extrapyramidal motor function Decreased liver function Sensorimotor neuropathy Hyperbilirubinemia Progressive forgetfulness



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