Rare Cardiology News

Disease Profile

Minicore myopathy with external ophthalmoplegia

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

-

ICD-10

G71.2

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)

Multicore myopathy with external ophthalmoplegia; Multiminicore disease with external ophthalmoplegia

Categories

Congenital and Genetic Diseases; Musculoskeletal Diseases; Nervous System Diseases

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
30%-79% of people have these symptoms
Axial muscle weakness
0003327
Decreased fetal movement
Less than 10 fetal movements in 12 hours
0001558
External ophthalmoplegia
Paralysis or weakness of muscles within or surrounding outer part of eye
0000544
Feeding difficulties
Feeding problems
Poor feeding

[ more ]

0011968
Generalized hypotonia
Decreased muscle tone
Low muscle tone

[ more ]

0001290
Increased connective tissue
0009025
Increased variability in muscle fiber diameter
0003557
Internally nucleated skeletal muscle fibers
0031237
Motor delay
0001270
Muscle fiber hypertrophy
0100293
Muscular dystrophy
0003560
Myopathic facies
0002058
Proximal muscle weakness
Weakness in muscles of upper arms and upper legs
0003701
Type 1 muscle fiber atrophy
0011807
Type 1 muscle fiber predominance
0003803
5%-29% of people have these symptoms
Cryptorchidism
Undescended testes
Undescended testis

[ more ]

0000028
Difficulty running
0009046
Edema
Fluid retention
Water retention

[ more ]

0000969
Facial diplegia
0001349
Flexion contracture
Flexed joint that cannot be straightened
0001371
Frog-leg posture
0031139
High palate
Elevated palate
Increased palatal height

[ more ]

0000218
Joint laxity
Joint instability
Lax joints
Loose-jointedness
Loosejointedness

[ more ]

0001388
Micropenis
Short penis
Small penis

[ more ]

0000054
Narrow face
Decreased breadth of face
Decreased width of face

[ more ]

0000275
Nemaline bodies
0003798
Pneumonia
0002090
Polyhydramnios
High levels of amniotic fluid
0001561
Ptosis
Drooping upper eyelid
0000508
Rectus femoris muscle atrophy
0040191
Recurrent respiratory infections
Frequent respiratory infections
Multiple respiratory infections
respiratory infections, recurrent
Susceptibility to respiratory infections

[ more ]

0002205
Respiratory failure
0002878
Scoliosis
0002650
Scrotal hypoplasia
Smaller than typical growth of scrotum
0000046
Severe postnatal growth retardation
Marked growth retardation
Severe growth delay in children
Severe postnatal growth failure

[ more ]

0008850
Shoulder girdle muscle weakness
Weak shoulder muscles
0003547
Sternocleidomastoid amyotrophy
0012036
Tented upper lip vermilion
0010804
Tibialis atrophy
0011399
Percent of people who have these symptoms is not available through HPO
Areflexia
Absent tendon reflexes
0001284
Autosomal recessive inheritance
0000007
Exercise-induced myalgia
Exercise-induced muscle pain
Muscle pain on exercise
Muscle pain with exercise
Muscle pain, exercise-induced

[ more ]

0003738
Facial palsy
Bell's palsy
0010628
Feeding difficulties in infancy
0008872
Generalized muscle weakness
0003324
Hydrops fetalis
0001789
Muscular hypotonia
Low or weak muscle tone
0001252
Neonatal hypotonia
Low muscle tone, in neonatal onset
0001319
Neonatal onset
0003623
Pulmonary hypoplasia
Small lung
Underdeveloped lung

[ more ]

0002089
Respiratory insufficiency
Respiratory impairment
0002093
Skeletal muscle atrophy
Muscle degeneration
Muscle wasting

[ more ]

0003202
Type 1 and type 2 muscle fiber minicore regions
0003787

Diagnosis

Making a diagnosis for a genetic or rare disease can often be challenging. Healthcare professionals typically look at a person’s medical history, symptoms, physical exam, and laboratory test results in order to make a diagnosis. The following resources provide information relating to diagnosis and testing for this condition. If you have questions about getting a diagnosis, you should contact a healthcare professional.

Testing Resources

  • The Genetic Testing Registry (GTR) provides information about the genetic tests for this condition. The intended audience for the GTR is health care providers and researchers. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.

Treatment

The resources below provide information about treatment options for this condition. If you have questions about which treatment is right for you, talk to your healthcare professional.

Management Guidelines

  • Project OrphanAnesthesia is a project whose aim is to create peer-reviewed, readily accessible guidelines for patients with rare diseases and for the anesthesiologists caring for them. The project is a collaborative effort of the German Society of Anesthesiology and Intensive Care, Orphanet, the European Society of Pediatric Anesthesia, anesthetists and rare disease experts with the aim to contribute to patient safety.

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

  • 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.
  • PubMed is a searchable database of medical literature and lists journal articles that discuss Minicore myopathy with external ophthalmoplegia. Click on the link to view a sample search on this topic.