National Center for Advancing and Translational Sciences Genetic and Rare Diseases Information Center, a program of the National Center for Advancing and Translational Sciences

DCMA syndrome



Other Names:
Dilated cardiomyopathy with ataxia; 3-methylglutaconic aciduria, type V; 3-methylglutaconic aciduria type 5; Dilated cardiomyopathy with ataxia; 3-methylglutaconic aciduria, type V; 3-methylglutaconic aciduria type 5; MGA5 See More
Categories:

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.
Last updated: 1/1/2007

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.

Showing of 46 |
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
Glutaric acidemia 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
Showing of 46 |
Last updated: 7/1/2020

If you need medical advice, you can look for doctors or other healthcare professionals who have experience with this disease. You may find these specialists through advocacy organizations, clinical trials, or articles published in medical journals. You may also want to contact a university or tertiary medical center in your area, because these centers tend to see more complex cases and have the latest technology and treatments.

If you can’t find a specialist in your local area, try contacting national or international specialists. They may be able to refer you to someone they know through conferences or research efforts. Some specialists may be willing to consult with you or your local doctors over the phone or by email if you can't travel to them for care.

You can find more tips in our guide, How to Find a Disease Specialist. We also encourage you to explore the rest of this page to find resources that can help you find specialists.

Healthcare Resources


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.

Questions sent to GARD may be posted here if the information could be helpful to others. We remove all identifying information when posting a question to protect your privacy. If you do not want your question posted, please let us know.