Laing distal myopathy
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.
Age of Onset
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.
X-linked 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.
Other Names (AKA)
Laing early-onset distal myopathy; Myopathy distal, type 1
Congenital and Genetic Diseases; Nervous System Diseases
Laing distal myopathy is a slowly progressive muscle disorder that tends to begin in childhood. Early symptoms include weakness in the feet and ankles, followed by weakness in the hands and wrists. Weakness in the feet leads to tightening of the Achilles tendon, an inability to lift the big toe, and a high-stepping walk. Weakness in the hands makes it more difficult to lift the fingers, especially the third and fourth fingers. As the muscle weakness slowly progresses over the course of many years, other muscles of the body (e.g., neck, face, legs, hips, and shoulders) weaken. Other findings include
Laing distal myopathy is caused by
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||
|80%-99% of people have these symptoms|
|Foot dorsiflexor weakness||
|Toe extensor amyotrophy||0011916|
|30%-79% of people have these symptoms|
|Abnormality of the calf musculature||
Abnormal calf muscles
|Distal muscle weakness||
Weakness of outermost muscles
[ more ]
Increased palatal height
[ more ]
|Mildly elevated creatine kinase||0008180|
[ more ]
|Neck muscle weakness||
|Progressive muscle weakness||0003323|
|Talipes cavus equinovarus||0004696|
|Type 1 muscle fiber predominance||0003803|
|Weakness of orbicularis oculi muscle||0012507|
|5%-29% of people have these symptoms|
Stretched and thinned heart muscle
|EMG: myopathic abnormalities||0003458|
|Proximal muscle weakness||
Weakness in muscles of upper arms and upper legs
|Proximal muscle weakness in lower limbs||0008994|
|Percent of people who have these symptoms is not available through HPO|
|Amyotrophy of ankle musculature||0009031|
Symptoms begin in childhood
|EMG: neuropathic changes||0003445|
Onset in first year of life
Onset in infancy
[ more ]
|Ragged-red muscle fibers||0003200|
Signs and symptoms worsen slowly with time
|Weakness of long finger extensor muscles||0009077|
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.
- Orphanet lists international laboratories offering diagnostic testing for this condition.
Related diseases are conditions that have similar signs and symptoms. A health care provider may consider these conditions in the table below when making a diagnosis. Please note that the table may not include all the possible conditions related to this disease.
Conditions with similar signs and symptoms from Orphanet
Differential diagnoses include milder congenital myopathies (central core disease and centronuclear myopathy) and distal myopathies (Udd distal myopathy, Nonaka distal myopathy, Markesbery-Griggs distal myopathy) (see these terms). Genetically related (allelic) disorders are familial hypertrophic cardiomyopathy 1 and myosin storage myopathy, however, the clinical picture of MPD1 is distinct from that of these conditions.
Visit the Orphanet disease page for more information.
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.
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.
- The Muscular Dystrophy Association has an information page entitled Facts on Myopathies. Click on Muscular Dystrophy Association to view the information page.
- The MerckManual has an information page on congenital myopathies. Click on MerckManual to view the information page.
- MedlinePlus Genetics contains information on Laing distal myopathy. This website is maintained by the National Library of Medicine.
- The National Organization for Rare Disorders (NORD) has a report for patients and families about this condition. NORD is a patient advocacy organization for individuals with rare diseases and the organizations that serve them.
- 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.
- eMedicine has an article on congenital myopathy that includes information on Laing distal myopathy. You may need to register to view the information online, but registration is free. Click on the link above to view the article from this medical reference Web site.
- 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 Laing distal myopathy. Click on the link to view a sample search on this topic.
- Lamont P, Wallefeld W, Davis M, Udd B, Laing N. Clinical utility gene card for: Laing distal myopathy. Eur J Hum Genet. 2011 Mar;19(3). doi: 10.1038/ejhg.2010.190. Epub 2010 Dec 8.
- Lamont PJ, Udd B, Mastaglia FL, de Visser M, Hedera P, Voit T, Bridges LR, Fabian V, Rozemuller A, Laing NG. Laing early onset distal myopathy: slow myosin defect with variable abnormalities on muscle biopsy. J Neurol Neurosurg Psychiatry. 2006 Feb;77(2):208-15. Epub 2005 Aug 15.
- Laing distal myopathy. Genetics Home Reference. December 2016; https://ghr.nlm.nih.gov/condition/laing-distal-myopathy.
- Lamont P, Laing NG.. Laing Distal Myopathy. GeneReviews. March 12, 2015; https://www.ncbi.nlm.nih.gov/books/NBK1433/.