Cardiomyopathy, and Leukodystrophy

Diseases related with Cardiomyopathy and Leukodystrophy

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


Top matches:

Medium match MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 2 WITH HYPERGLYCINEMIA; MMDS2


Multiple mitochondrial dysfunctions syndrome-2 (MMDS2) with hyperglycinemia is a severe autosomal recessive disorder characterized by developmental regression in infancy. Affected children have an encephalopathic disease course with seizures, spasticity, loss of head control, and abnormal movement. Additional more variable features include optic atrophy, cardiomyopathy, and leukodystrophy. Laboratory studies show increased serum glycine and lactate. Most patients die in childhood. The disorder represents a form of 'variant' nonketotic hyperglycinemia and is distinct from classic nonketotic hyperglycinemia (NKH, or GCE; {605899}), which is characterized by significantly increased CSF glycine. Several forms of 'variant' NKH, including MMDS2, appear to result from defects of mitochondrial lipoate biosynthesis (summary by Baker et al., 2014).For a general description and a discussion of genetic heterogeneity of multiple mitochondrial dysfunctions syndrome, see MMDS1 (OMIM ).

Related symptoms:

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Ataxia
  • Spasticity


SOURCES: OMIM MENDELIAN

More info about MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 2 WITH HYPERGLYCINEMIA; MMDS2

Medium match LIPOIC ACID SYNTHETASE DEFICIENCY


Lipoic acid synthetase deficiency is a rare neurometabolic disease characterized by a neonatal onset of seizures (often intractable), muscular hypotonia, feeding difficulties (poor sucking and/or swallowing) and mild to severe psychomotor delay, associated with nonketotic hyperglycinemia typically revealed by biochemical analysis. Respiratory problems (apnea, acute respiratory acidosis), lethargy, hearing loss, microcephaly and spasticity with pyramidal signs may also be associated.

LIPOIC ACID SYNTHETASE DEFICIENCY Is also known as pyruvate dehydrogenase lipoic acid synthetase deficiency|pdhld

Related symptoms:

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Microcephaly
  • Growth delay


SOURCES: ORPHANET OMIM MENDELIAN

More info about LIPOIC ACID SYNTHETASE DEFICIENCY

Medium match LEIGH SYNDROME WITH LEUKODYSTROPHY


LEIGH SYNDROME WITH LEUKODYSTROPHY Is also known as leigh disease with leukodystrophy|infantile subacute necrotizing encephalopathy with leukodystrophy

Related symptoms:

  • Seizures
  • Global developmental delay
  • Hearing impairment
  • Nystagmus
  • Failure to thrive


SOURCES: ORPHANET MENDELIAN

More info about LEIGH SYNDROME WITH LEUKODYSTROPHY

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Other less relevant matches:

Medium match REFSUM DISEASE, CLASSIC


Refsum disease is an autosomal recessive inborn error of lipid metabolism classically characterized by a tetrad of clinical abnormalities: retinitis pigmentosa, peripheral neuropathy, cerebellar ataxia, and elevated protein levels in the cerebrospinal fluid (CSF) without an increase in the number of cells. However, not all patients show all these features. All patients have accumulation of an unusual branched-chain fatty acid, phytanic acid, in blood and tissues. Other variable features include cardiac dysfunction, nerve deafness, ichthyosis, and multiple epiphyseal dysplasia (review by Skjeldal et al., 1987).Increased levels of phytanic acid can also be found in peroxisomal biogenesis disorders; see Zellweger syndrome (see {214100}) (Skjeldal et al., 1987).Infantile Refsum disease (see PBD1B, {601539}) is a distinct disorder with a different phenotype and genetic basis.A phenotype clinically indistinguishable from that of classic Refsum disease (PBD9B ), but with a different biochemical profile, can be caused by mutation in the gene encoding peroxin-7 (PEX7 ) on chromosome 6q.

REFSUM DISEASE, CLASSIC Is also known as heredopathia atactica polyneuritiformis|hmsn iv|phytanic acid oxidase deficiency|hereditary motor and sensory neuropathy iv|hmsn4|refsum disease, adult, 1

Related symptoms:

  • Seizures
  • Global developmental delay
  • Hearing impairment
  • Ataxia
  • Nystagmus


SOURCES: OMIM MENDELIAN

More info about REFSUM DISEASE, CLASSIC

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

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 INFANTILE REFSUM DISEASE


Infantile Refsum disease (IRD) is the mildest variant of the peroxisome biogenesis disorders, Zellweger syndrome spectrum (PBD- ZSS; see this term), characterized by hypotonia, retinitis pigmentosa, developmental delay, sensorineural hearing loss and liver dysfunction. Phenotypic overlap is seen between IRD and neonatal adrenoleukodystrophy (NALD) (see this term).

INFANTILE REFSUM DISEASE Is also known as adrenoleukodystrophy, autosomal neonatal|infantile phytanic acid storage disease|peroxisome biogenesis disorder (nald/ird)|ird|refsum disease, infantile|peroxisome biogenesis disorder (neonatal adrenoleukodystrophy/infantile refsum disease)

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about INFANTILE REFSUM DISEASE

Low match MITOCHONDRIAL DNA DEPLETION SYNDROME, ENCEPHALOMYOPATHIC FORM WITH VARIABLE CRANIOFACIAL ANOMALIES


Mitochondrial DNA depletion syndrome-13 is an autosomal recessive disorder characterized by early infantile onset of encephalopathy, hypotonia, lactic acidosis, and severe global developmental delay. Cells derived from patient tissues show defects in mitochondrial oxidative phosphorylation and decreased mtDNA content (summary by Bonnen et al., 2013 and Gai et al., 2013).For a discussion of genetic heterogeneity of autosomal recessive mtDNA depletion syndromes, see MTDPS1 (OMIM ).

MITOCHONDRIAL DNA DEPLETION SYNDROME, ENCEPHALOMYOPATHIC FORM WITH VARIABLE CRANIOFACIAL ANOMALIES Is also known as mtdna depletion syndrome, encephalomyopathic form with variable craniofacial anomalies

Related symptoms:

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Microcephaly
  • Scoliosis


SOURCES: OMIM ORPHANET MENDELIAN

More info about MITOCHONDRIAL DNA DEPLETION SYNDROME, ENCEPHALOMYOPATHIC FORM WITH VARIABLE CRANIOFACIAL ANOMALIES

Low match MULTIPLE ACYL-COA DEHYDROGENASE DEFICIENCY; MADD


Glutaric aciduria II (GA2) is an autosomal recessively inherited disorder of fatty acid, amino acid, and choline metabolism. It differs from GA I (GA1 ) in that multiple acyl-CoA dehydrogenase deficiencies result in large excretion not only of glutaric acid, but also of lactic, ethylmalonic, butyric, isobutyric, 2-methyl-butyric, and isovaleric acids. GA II results from deficiency of any 1 of 3 molecules: the alpha (ETFA) and beta (ETFB) subunits of electron transfer flavoprotein, and electron transfer flavoprotein dehydrogenase (ETFDH). The clinical picture of GA II due to the different defects appears to be indistinguishable; each defect can lead to a range of mild or severe cases, depending presumably on the location and nature of the intragenic lesion, i.e., mutation, in each case (Goodman, 1993; Olsen et al., 2003).The heterogeneous clinical features of patients with MADD fall into 3 classes: a neonatal-onset form with congenital anomalies (type I), a neonatal-onset form without congenital anomalies (type II), and a late-onset form (type III). The neonatal-onset forms are usually fatal and are characterized by severe nonketotic hypoglycemia, metabolic acidosis, multisystem involvement, and excretion of large amounts of fatty acid- and amino acid-derived metabolites. Symptoms and age at presentation of late-onset MADD are highly variable and characterized by recurrent episodes of lethargy, vomiting, hypoglycemia, metabolic acidosis, and hepatomegaly often preceded by metabolic stress. Muscle involvement in the form of pain, weakness, and lipid storage myopathy also occurs. The organic aciduria in patients with the late-onset form of MADD is often intermittent and only evident during periods of illness or catabolic stress (summary by Frerman and Goodman, 2001).Importantly, riboflavin treatment has been shown to ameliorate the symptoms and metabolic profiles in many MADD patients, particularly those with type III, the late-onset and mildest form (Liang et al., 2009).

MULTIPLE ACYL-COA DEHYDROGENASE DEFICIENCY; MADD Is also known as ema|ethylmalonic-adipicaciduria|glutaric aciduria ii|ga ii|glutaric acidemia ii|ga2

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about MULTIPLE ACYL-COA DEHYDROGENASE DEFICIENCY; MADD

Low match ISOLATED COMPLEX I DEFICIENCY


Isolated complex I deficiency is a rare inborn error of metabolism due to mutations in nuclear or mitochondrial genes encoding subunits or assembly factors of the human mitochondrial complex I (NADH: ubiquinone oxidoreductase) and is characterized by a wide range of manifestations including marked and often fatal lactic acidosis, cardiomyopathy, leukoencephalopathy, pure myopathy and hepatopathy with tubulopathy. Among the numerous clinical phenotypes observed are Leigh syndrome, Leber hereditary optic neuropathy and MELAS syndrome (see these terms).

ISOLATED COMPLEX I DEFICIENCY Is also known as isolated nadh-ubiquinone reductase deficiency|nadh:q(1) oxidoreductase deficiency|isolated nadh-coq reductase deficiency|isolated mitochondrial respiratory chain complex i deficiency|isolated nadh-coenzyme q reductase deficiency|nadh-coenzyme q reductase

Related symptoms:

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


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about ISOLATED COMPLEX I DEFICIENCY

Top 5 symptoms//phenotypes associated to Cardiomyopathy and Leukodystrophy

Symptoms // Phenotype % cases
Seizures Very Common - Between 80% and 100% cases
Global developmental delay Very Common - Between 80% and 100% cases
Generalized hypotonia Common - Between 50% and 80% cases
Ataxia Common - Between 50% and 80% cases
Spasticity Common - Between 50% and 80% cases
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Other less frequent symptoms

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

Common Symptoms - More than 50% cases


Failure to thrive

Uncommon Symptoms - Between 30% and 50% cases


Acidosis

Common Symptoms - More than 50% cases


Hypertrophic cardiomyopathy

Uncommon Symptoms - Between 30% and 50% cases


Nystagmus

Common Symptoms - More than 50% cases


Lactic acidosis

Uncommon Symptoms - Between 30% and 50% cases


Increased serum lactate

Common Symptoms - More than 50% cases


Optic atrophy

Uncommon Symptoms - Between 30% and 50% cases


Encephalopathy Dystonia Muscular hypotonia Ptosis Pigmentary retinopathy Abnormal facial shape Dysphagia Growth delay Arrhythmia Respiratory failure Vomiting Respiratory insufficiency Cataract Respiratory tract infection Hyperreflexia Hepatomegaly Sensorineural hearing impairment Intellectual disability Visual impairment Skeletal muscle atrophy Congestive heart failure Hearing impairment Strabismus Decreased activity of the pyruvate dehydrogenase complex Myoclonus Absent speech Developmental regression Increased CSF lactate Respiratory distress Ophthalmoplegia Blindness Cardiomegaly Limb muscle weakness Renal cyst Ragged-red muscle fibers Flexion contracture Metabolic acidosis Gliosis Exercise intolerance Muscle weakness Myopathy Proximal muscle weakness Retinopathy Congenital cataract Neonatal hypotonia Dysarthria Microcephaly Motor delay Feeding difficulties Cerebral atrophy Dilated cardiomyopathy Apnea Severe global developmental delay Lethargy Edema Peripheral neuropathy Decreased activity of mitochondrial respiratory chain

Rare Symptoms - Less than 30% cases


Hyperammonemia Fatigue Cardiac arrest Tetraplegia Gait disturbance Difficulty walking Hyperglycinemia Muscular hypotonia of the trunk Renal tubular acidosis Abnormality of the eye Pallor Abnormality of eye movement Babinski sign Global brain atrophy Wide anterior fontanel Diarrhea Nonketotic hyperglycinemia Optic disc pallor Macrocephaly Truncal ataxia Elevated levels of phytanic acid Behavioral abnormality Elevated hepatic transaminase Cardiorespiratory arrest Epicanthus Respiratory arrest Left ventricular hypertrophy Mitochondrial respiratory chain defects Abnormality of the pinna Short stature Incoordination High forehead Hyperoxaluria Hepatic steatosis Tetraparesis Wide nasal bridge Delayed speech and language development Spastic tetraparesis Coma Rhabdomyolysis Ketosis Brain atrophy Emotional lability Hypertrichosis Cerebral edema Progressive cerebellar ataxia Abnormality of movement Anemia Pancreatitis Spastic tetraplegia Hyporeflexia Acute pancreatitis Oral-pharyngeal dysphagia Abnormal mitochondria in muscle tissue Areflexia Jaundice Leukoencephalopathy Epiphyseal stippling Cerebellar atrophy Hypoglycemia Myalgia Poor head control Easy fatigability Abnormality of the liver Ichthyosis Ketonuria Nyctalopia Generalized myoclonic seizures Rod-cone dystrophy Generalized muscle weakness Loss of ability to walk Arthralgia of the hip Generalized aminoaciduria Oliguria Glutaric aciduria Progressive spastic quadriplegia Personality disorder Hypoglycemic coma Nonketotic hypoglycemia Impaired mastication Limb tremor Renal cortical cysts Cataplexy Narcolepsy Gastrointestinal inflammation Abnormal corpus callosum morphology Stridor Abnormality of the renal tubule Difficulty climbing stairs Decreased liver function Clonus Type I diabetes mellitus Scapular winging Mutism Slurred speech Polycystic kidney dysplasia Back pain Hemiplegia Ventricular fibrillation Restrictive ventilatory defect Glycosuria Episodic vomiting Acute kidney injury Fatigable weakness Drowsiness Myoglobinuria Progressive proximal muscle weakness Excessive daytime somnolence Chronic fatigue Organic aciduria Hypoketotic hypoglycemia Exercise-induced myalgia Medulloblastoma Proximal tubulopathy Glutaric acidemia Migraine Increased muscle lipid content Mitochondrial myopathy Congenital diaphragmatic hernia Coarctation of aorta Ventricular hypertrophy Aspiration Horizontal nystagmus Shock Adrenal insufficiency Pericardial effusion Progressive spasticity Poor eye contact Weak cry Basal ganglia calcification Optic neuropathy Progressive encephalopathy Aspiration pneumonia Febrile seizures Nemaline bodies Wolff-Parkinson-White syndrome Corpus callosum atrophy Severe lactic acidosis Stiff neck Axial dystonia Biventricular hypertrophy Infantile encephalopathy Macrovesicular hepatic steatosis Cardiogenic shock Progressive macrocephaly Necrotizing encephalopathy Congenital lactic acidosis Acute necrotizing encephalopathy Cyanosis Premature birth Ketotic hypoglycemia Talipes equinovarus Elevated plasma acylcarnitine levels Reduced protein C activity Reye syndrome-like episodes Ethylmalonic aciduria Hypersarcosinemia Fatigable weakness of distal limb muscles Fatigable weakness of neck muscles Abnormality of branched chain family amino acid metabolism Defective dehydrogenation of isovaleryl CoA and butyryl CoA Hepatic periportal necrosis Electron transfer flavoprotein-ubiquinone oxidoreductase defect Abnormality of blood glucose concentration Micrognathia Intrauterine growth retardation Atrial septal defect Abnormal cerebellum morphology Irritability Dyskinesia Hepatic failure Stage 5 chronic kidney disease Talipes Stroke Abnormal pyramidal sign Feeding difficulties in infancy Renal insufficiency Mental deterioration Kyphoscoliosis Agenesis of corpus callosum Pneumonia Patent ductus arteriosus Hernia Anorexia Impulsivity Renal dysplasia Hemolytic-uremic syndrome Abnormal pattern of respiration Hepatocellular necrosis Episodic metabolic acidosis Cognitive impairment Hypertonia Dementia Mitral regurgitation Congenital hip dislocation External ophthalmoplegia Preeclampsia Left ventricular noncompaction Paraganglioma Increased intramyocellular lipid droplets Asymmetric septal hypertrophy Progressive leukoencephalopathy Decreased activity of mitochondrial complex II Left ventricular systolic dysfunction Stress/infection-induced lactic acidosis Low-set ears High palate Anteverted nares Midface retrusion Osteoporosis Facial palsy Postnatal growth retardation Dolichocephaly CNS demyelination Failure to thrive in infancy Esotropia Retinal degeneration Epileptic encephalopathy Abnormality of extrapyramidal motor function Malnutrition Hydrocephalus Sleep disturbance Poor suck Profound global developmental delay Ventricular septal defect Intellectual disability, severe Progressive spastic paraplegia Focal T2 hyperintense basal ganglia lesion Pes cavus Polyneuropathy Progressive neurologic deterioration Sensory impairment Sensorimotor neuropathy Progressive hearing impairment Anosmia Bilateral ptosis Epiphyseal dysplasia Increased CSF protein Multiple epiphyseal dysplasia Miosis Abnormal renal physiology Short fourth metatarsal Neurodegeneration Peripheral demyelination Cirrhosis Convex nasal ridge Heterotopia Dyspnea Gastrointestinal dysmotility Hyperalaninemia Persistent lactic acidosis Pain Depressed nasal bridge Fever Tremor Headache Depressivity Elevated serum creatine phosphokinase Gait ataxia Weight loss Arthralgia Plagiocephaly Telecanthus Hyperlordosis Abnormality of the cerebral white matter Nausea and vomiting Joint hyperflexibility Nausea Pulmonary hypoplasia Muscle cramps Aciduria Waddling gait Abnormality of the genital system Pachygyria Concave nasal ridge Narrow face Abnormality of the face Scoliosis Large fontanelles Nephrolithiasis Abnormality of epiphysis morphology Rhizomelia Progressive muscle weakness Hepatic fibrosis Spinal muscular atrophy Constriction of peripheral visual field Severe hearing impairment Hypocholesterolemia Progressive spinal muscular atrophy Very long chain fatty acid accumulation Downslanted palpebral fissures Choreoathetosis Ventriculomegaly Hypoplasia of the corpus callosum Recurrent infections Hypospadias Cerebellar hypoplasia Gastroesophageal reflux Protruding ear Small for gestational age Thick eyebrow Everted lower lip vermilion Short foot Neutropenia Delayed myelination Exercise-induced lactic acidemia



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