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Disease Profile

Mitochondrial myopathy with diabetes

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

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

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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)

Mitochondrial myopathy, lipid type

Categories

Congenital and Genetic Diseases; Endocrine 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: 2596

Definition
A rare, genetic, mitochondrial DNA-related mitochondrial myopathy disorder characterized by slowly progressive muscular weakness (proximal greater than distal), predominantly involving the facial muscles and scapular girdle, associated with insulin-dependent diabetes mellitus. Neurological involvement and congenital myopathy may be variably observed.

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
Proximal amyotrophy
Wasting of muscles near the body
0007126
Skeletal myopathy
0003756
Type I diabetes mellitus
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
Dysarthria
Difficulty articulating speech
0001260
Frequent falls
0002359
Intellectual disability, moderate
IQ between 34 and 49
0002342
Myalgia
Muscle ache
Muscle pain

[ more ]

0003326
Pelvic girdle muscle weakness
0003749
Peripheral axonal neuropathy
0003477
Progressive cerebellar ataxia
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 contracture
Shortening of the achilles tendon
Tight achilles tendon

[ more ]

0001771
Delirium
0031258
Dementia
Dementia, progressive
Progressive dementia

[ more ]

0000726
Impaired vibratory sensation
Decreased vibration sense
Decreased vibratory sense
Diminished vibratory sense
Impaired vibratory sense

[ more ]

0002495
Neonatal hypotonia
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
Mitochondrial inheritance
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

    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.