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Disease Profile

Hereditary proximal myopathy with early respiratory failure

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.
<1 / 1 000 000

< 331

US Estimated

< 514

Europe Estimated

Age of onset

Adult

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ICD-10

G71.0

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.

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)

ADMERF; Edström Myopathy; Hereditary inclusion body myopathy with early respiratory failure;

Categories

Congenital and Genetic 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
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
Foot dorsiflexor weakness
Foot drop
0009027
Increased variability in muscle fiber diameter
0003557
Internally nucleated skeletal muscle fibers
0031237
Limited hip movement
0008800
Muscle fiber splitting
0003555
Neck flexor weakness
Neck flexion weakness
0003722
Necrotizing myopathy
0008978
Orthopnea
0012764
Reduced vital capacity
0002792
Respiratory insufficiency due to muscle weakness
Decreased lung function due to weak breathing muscles
0002747
Restrictive ventilatory defect
Stiff lung or chest wall causing decreased lung volume
0002091
Rimmed vacuoles
0003805
Skeletal muscle atrophy
Muscle degeneration
Muscle wasting

[ more ]

0003202
Type 1 muscle fiber predominance
0003803
5%-29% of people have these symptoms
Calf muscle hypertrophy
Increased size of calf muscles
0008981
Muscle fiber hypertrophy
0100293
Proximal muscle weakness
Weakness in muscles of upper arms and upper legs
0003701
Tibialis muscle weakness
0008963
1%-4% of people have these symptoms
Achilles tendon contracture
Shortening of the achilles tendon
Tight achilles tendon

[ more ]

0001771
Adult onset
Symptoms begin in adulthood
0003581
Falls
0002527
Nocturnal hypoventilation
0002877
Scapular winging
Winged shoulder blade
0003691
Percent of people who have these symptoms is not available through HPO
Autosomal dominant inheritance
0000006
Diaphragmatic weakness
Weak diaphragm
0009113
Difficulty walking
Difficulty in walking
0002355
Frequent falls
0002359
Myofibrillar myopathy
0003715
Pelvic girdle muscle weakness
0003749
Quadriceps muscle weakness
Quadriceps weakness
0003731
Respiratory failure
0002878
Shoulder girdle muscle weakness
Weak shoulder muscles
0003547
Slow progression
Signs and symptoms worsen slowly with time
0003677

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

  • Genetics Home Reference (GHR) contains information on Hereditary proximal myopathy with early respiratory failure. This website is maintained by the National Library of Medicine.

In-Depth Information

  • GeneReviews provides current, expert-authored, peer-reviewed, full-text articles describing the application of genetic testing to the diagnosis, management, and genetic counseling of patients with specific inherited conditions.
  • 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.