Rare Immunology News
Advertisement
Disease Profile
Mitochondrial myopathy with diabetes
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.
0
Age of onset
Neonatal
ICD-10
G71.3
Inheritance
Autosomal dominant A pathogenic variant in only one gene copy in each cell is sufficient to cause an autosomal dominant disease.
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.
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.
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.
X-linked
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder.
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder.
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.
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.
Not applicable
Other names (AKA)
Mitochondrial myopathy, lipid type
Categories
Congenital and Genetic Diseases; Endocrine Diseases; Metabolic disorders;
Summary
Orpha Number: 2596
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 | ||
Proximal amyotrophy |
Wasting of muscles near the body
|
0007126 |
Skeletal myopathy | 0003756 | |
Type I |
Type 1 diabetes
Type I diabetes
[ more ] |
0100651 |
30%-79% of people have these symptoms | ||
Babinski sign | 0003487 | |
Difficulty climbing stairs |
Difficulty walking up stairs
|
0003551 |
Difficulty running | 0009046 | |
Exercise intolerance |
Decreased ability to exercise
Inability to exercise
[ more ] |
0003546 |
Hyporeflexia of upper limbs | 0012391 | |
Inability to walk | 0002540 | |
Lower limb hyperreflexia |
Overactive lower leg reflex
|
0002395 |
Progressive proximal muscle weakness | 0009073 | |
Shoulder girdle muscle weakness |
Weak shoulder muscles
|
0003547 |
5%-29% of people have these symptoms | ||
Distal lower limb amyotrophy | 0008944 | |
Difficulty articulating speech
|
0001260 | |
Frequent falls | 0002359 | |
IQ between 34 and 49
|
0002342 | |
Myalgia |
Muscle ache
Muscle pain
[ more ] |
0003326 |
0003749 | ||
Peripheral axonal neuropathy | 0003477 | |
Progressive cerebellar |
0002073 | |
Respiratory distress |
Breathing difficulties
Difficulty breathing
[ more ] |
0002098 |
Sternocleidomastoid amyotrophy | 0012036 | |
Tip-toe gait |
Walking on tiptoes
|
0030051 |
Weakness of orbicularis oculi muscle | 0012507 | |
1%-4% of people have these symptoms | ||
Achilles tendon |
Shortening of the achilles tendon
Tight achilles tendon
[ more ] |
0001771 |
Delirium | 0031258 | |
Dementia, progressive
Progressive dementia
[ more ] |
0000726 | |
Impaired vibratory sensation |
Decreased vibration sense
Decreased vibratory sense
Diminished vibratory sense
Impaired vibratory sense
[ more ] |
0002495 |
Neonatal |
Low muscle tone, in neonatal onset
|
0001319 |
Schizophrenia | 0100753 | |
Sensorineural hearing impairment | 0000407 | |
Percent of people who have these symptoms is not available through HPO | ||
Ataxia | 0001251 | |
Decreased activity of mitochondrial complex IV | 0008347 | |
Elevated serum creatine kinase |
Elevated blood creatine phosphokinase
Elevated circulating creatine phosphokinase
Elevated creatine kinase
Elevated serum CPK
Elevated serum creatine phosphokinase
High serum creatine kinase
Increased CPK
Increased creatine kinase
Increased creatine phosphokinase
Increased serum CK
Increased serum creatine kinase
Increased serum creatine phosphokinase
[ more ] |
0003236 |
EMG: myopathic abnormalities | 0003458 | |
Facial palsy |
Bell's palsy
|
0010628 |
Generalized hypotonia |
Decreased muscle tone
Low muscle tone
[ more ] |
0001290 |
Hyporeflexia |
Decreased reflex response
Decreased reflexes
[ more ] |
0001265 |
0001427 | ||
Mitochondrial myopathy | 0003737 | |
Motor delay | 0001270 | |
Muscular hypotonia |
Low or weak muscle tone
|
0001252 |
Proximal muscle weakness |
Weakness in muscles of upper arms and upper legs
|
0003701 |
Ragged-red muscle fibers | 0003200 | |
Type II diabetes mellitus |
Noninsulin-dependent diabetes
Type 2 diabetes
Type II diabetes
[ more ] |
0005978 |
Organizations
Support and advocacy groups can help you connect with other patients and families, and they can provide valuable services. Many develop patient-centered information and are the driving force behind research for better treatments and possible cures. They can direct you to research, resources, and services. Many organizations also have experts who serve as medical advisors or provide lists of doctors/clinics. Visit the group’s website or contact them to learn about the services they offer. Inclusion on this list is not an endorsement by GARD.
Organizations Providing General Support
-
MitoAction
PO Box 310
Novi, MI 48376
Toll-free: 888-648-6228
E-mail: [email protected]
Website: https://www.mitoaction.org/
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.
Where to Start
- The Muscular Dystrophy Association has developed a resource called "Facts About Myopathies" that discusses commonly asked questions regarding myopathies. Click on the link above to view this information page.
In-Depth Information
- The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
- 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.