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Disease Profile

DCMA syndrome

Prevalence
Prevalence estimates on Rare Medical Network websites are calculated based on data available from numerous sources, including US and European government statistics, the NIH, Orphanet, and published epidemiologic studies. Rare disease population data is recognized to be highly variable, and based on a wide variety of source data and methodologies, so the prevalence data on this site should be assumed to be estimated and cannot be considered to be absolutely correct.

Unknown

Age of onset

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ICD-10

#N/A

Inheritance

Autosomal dominant A pathogenic variant in only one gene copy in each cell is sufficient to cause an autosomal dominant disease

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Autosomal recessive Pathogenic variants in both copies of each gene of the chromosome are needed to cause an autosomal recessive disease and observe the mutant phenotype

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X-linked
dominant X-linked dominant inheritance, sometimes referred to as X-linked dominance, is a mode of genetic inheritance by which a dominant gene is carried on the X chromosome.

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X-linked
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder

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Mitochondrial or multigenic Mitochondrial genetic disorders can be caused by changes (mutations) in either the mitochondrial DNA or nuclear DNA that lead to dysfunction of the mitochondria and inadequate production of energy.

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Multigenic or multifactor Inheritance involving many factors, of which at least one is genetic but none is of overwhelming importance, as in the causation of a disease by multiple genetic and environmental factors.

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Not applicable

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Other names (AKA)

Dilated cardiomyopathy with ataxia; 3-methylglutaconic aciduria, type V; 3-methylglutaconic aciduria type 5;

Categories

Congenital and Genetic Diseases; Heart Diseases; Metabolic disorders

Summary

The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.
orphanet

Orpha Number: 66634

Definition
Dilated cardiomyopathy with ataxia (DCMA) is characterized by severe early onset (before the age of three years) dilated cardiomyopathy (DCM) with conduction defects (long QT syndrome), non-progressive cerebellar ataxia, testicular dysgenesis, and 3-methylglutaconic aciduria.

Epidemiology
To date, all cases of DCMA reported involve individuals from the Dariusleut Hutterite population, an endogamous population of the Great Plains region of Canada and the northern United States.

Clinical description
Prenatal or postnatal growth failure, significant motor delay (due to cerebellar syndrome with ataxia) and male genital anomalies (ranging from isolated cryptorchidism to severe perineal hypospadias) are very frequent clinical signs. Additional features include optic atrophy, a mild increase in hepatic enzymes with microvesicular hepatic steatosis, a normochromic microcytic anemia, and mild to borderline non-progressive intellectual deficit.

Etiology
DCMA is caused by mutation of the DNAJC19 gene (encoding the DNAJC19 protein localized to the mitochondria in cardiac myocytes).

Differential diagnosis
DCMA syndrome shares some clinical features with the X-linked Barth syndrome and the other 3-methylglutaconic acidurias (types I, III and IV; see these terms).

Genetic counseling
DCMA is an autosomal recessive condition.

Prognosis
In a clinical study of 18 DCMA patients, over 70% of patients died from either progressive cardiac failure or sudden cardiac death. Improvement with standard medical treatment or complete resolution of the DCM has been reported in some patients.

Visit the Orphanet disease page for more resources.

Symptoms

This table lists symptoms that people with this disease may have. For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. This information comes from a database called the Human Phenotype Ontology (HPO) . The HPO collects information on symptoms that have been described in medical resources. The HPO is updated regularly. Use the HPO ID to access more in-depth information about a symptom.

Medical Terms Other Names
Learn More:
HPO ID
80%-99% of people have these symptoms
3-Methylglutaconic aciduria
0003535
Ataxia
0001251
Dilated cardiomyopathy
Stretched and thinned heart muscle
0001644
Elevated circulating glutaric acid concentration
0003530
30%-79% of people have these symptoms
Delayed gross motor development
Delayed motor skills
0002194
Elevated hepatic transaminase
High liver enzymes
0002910
Hypochromic microcytic anemia
0004840
Increased serum lactate
0002151
Intrauterine growth retardation
Prenatal growth deficiency
Prenatal growth retardation

[ more ]

0001511
Normochromic microcytic anemia
0004856
Prolonged QT interval
0001657
5%-29% of people have these symptoms
Bilateral cryptorchidism
0008689
Hypoplasia of penis
Underdeveloped penis
0008736
Microvesicular hepatic steatosis
0001414
Muscular ventricular septal defect
0011623
Neonatal hypoglycemia
Low blood sugar in newborn
0001998
Optic atrophy
0000648
Perineal hypospadias
0000051
Seizure
0001250
1%-4% of people have these symptoms
Abnormal facial shape
Unusual facial appearance
0001999
Action tremor
0002345
Arachnoid cyst
Fluid-filled sac located in membrane surrounding brain or spinal cord
0100702
Atrophy/Degeneration affecting the brainstem
0007366
Bilateral basal ganglia lesions
0007146
Bilateral sensorineural hearing impairment
0008619
Developmental regression
Loss of developmental milestones
Mental deterioration in childhood

[ more ]

0002376
Diaphragmatic eventration
0009110
Dyskinesia
Disorder of involuntary muscle movements
0100660
Dystonia
0001332
Generalized amyotrophy
Diffuse skeletal muscle wasting
Generalized muscle degeneration
Muscle atrophy, generalized

[ more ]

0003700
Hypothyroidism
Underactive thyroid
0000821
Lower limb spasticity
0002061
Muscle weakness
Muscular weakness
0001324
Neonatal hypotonia
Low muscle tone, in neonatal onset
0001319
Repetitive compulsive behavior
0008762
Percent of people who have these symptoms is not available through HPO
3-Methylglutaric aciduria
0003344
Autosomal recessive inheritance
0000007
Congestive heart failure
Cardiac failure
Cardiac failures
Heart failure

[ more ]

0001635
Cryptorchidism
Undescended testes
Undescended testis

[ more ]

0000028
Decreased testicular size
Small testes
Small testis

[ more ]

0008734
Glutaric aciduria
0003150
Hypospadias
0000047
Intellectual disability
Mental deficiency
Mental retardation
Mental retardation, nonspecific
Mental-retardation

[ more ]

0001249
Noncompaction cardiomyopathy
0012817
Nonprogressive cerebellar ataxia
0002470
Sudden cardiac death
Premature sudden cardiac death
0001645

Learn more

These resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional.

In-Depth Information

  • Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine. 
  • Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.