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Laing distal myopathy


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Other Names:
Laing early-onset distal myopathy; Myopathy distal, type 1
Categories:
Congenital and Genetic Diseases; Nervous System Diseases
This disease is grouped under:
Myosinopathies

Summary Summary


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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.[1] Other findings include scoliosis and cardiomyopathy in up to one third of individuals.[2] Most affected people remain mobile throughout life.[1][2] Life expectancy is normal.[1]

Laing distal myopathy is caused by mutations in the MYH7 gene and is inherited in an autosomal dominant fashion.[1][2] Treatment may include physiotherapy to prevent tightening of the Achilles tendon and splinting of the ankle. Annual neurologic examinations, evaluations for scoliosis, and regular assessments of cardiac and respiratory functions may be necessary.[2] 
Last updated: 9/9/2018

Symptoms Symptoms


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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.

Showing of 31 |
Medical Terms Other Names
Learn More:
HPO ID
80%-99% of people have these symptoms
Foot dorsiflexor weakness
Foot drop
0009027
Toe extensor amyotrophy 0011916
30%-79% of people have these symptoms
Abnormal mitochondria in muscle tissue 0008316
Abnormality of the calf musculature
Abnormal calf muscles
0001430
Distal muscle weakness
Weakness of outermost muscles
0002460
Gait disturbance
Abnormal gait
Abnormal walk
Impaired gait
[ more ]
0001288
High palate
Elevated palate
Increased palatal height
[ more ]
0000218
Mildly elevated creatine kinase 0008180
Minicore myopathy 0003789
Myalgia
Muscle ache
Muscle pain
[ more ]
0003326
Neck muscle weakness
Floppy neck
0000467
Progressive muscle weakness 0003323
Scoliosis 0002650
Talipes cavus equinovarus 0004696
Type 1 muscle fiber predominance 0003803
Weakness of orbicularis oculi muscle 0012507
5%-29% of people have these symptoms
Dilated cardiomyopathy
Stretched and thinned heart muscle
0001644
EMG: myopathic abnormalities 0003458
Proximal muscle weakness
Weakness in muscles of upper arms and upper legs
0003701
Proximal muscle weakness in lower limbs 0008994
Percent of people who have these symptoms is not available through HPO
Amyotrophy of ankle musculature 0009031
Autosomal dominant inheritance 0000006
Childhood onset
Symptoms begin in childhood
0011463
EMG: neuropathic changes 0003445
Facial palsy
Bell's palsy
0010628
Infantile onset
Onset in first year of life
Onset in infancy
[ more ]
0003593
Pes cavus
High-arched foot
0001761
Ragged-red muscle fibers 0003200
Rimmed vacuoles 0003805
Slow progression
Signs and symptoms worsen slowly with time
0003677
Weakness of long finger extensor muscles 0009077
Showing of 31 |
Do you have more information about symptoms of this disease? We want to hear from you.
Last updated: 1/1/2021
Do you have updated information on this disease? We want to hear from you.

Diagnosis Diagnosis


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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

  • Orphanet lists international laboratories offering diagnostic testing for this condition.

Find a Specialist Find a Specialist


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If you need medical advice, you can look for doctors or other healthcare professionals who have experience with this disease. You may find these specialists through advocacy organizations, clinical trials, or articles published in medical journals. You may also want to contact a university or tertiary medical center in your area, because these centers tend to see more complex cases and have the latest technology and treatments.

If you can’t find a specialist in your local area, try contacting national or international specialists. They may be able to refer you to someone they know through conferences or research efforts. Some specialists may be willing to consult with you or your local doctors over the phone or by email if you can't travel to them for care.

You can find more tips in our guide, How to Find a Disease Specialist. We also encourage you to explore the rest of this page to find resources that can help you find specialists.

Healthcare Resources

  • To find a medical professional who specializes in genetics, you can ask your doctor for a referral or you can search for one yourself. Online directories are provided by the American College of Medical Genetics and the National Society of Genetic Counselors. If you need additional help, contact a GARD Information Specialist. You can also learn more about genetic consultations from Genetics Home Reference.

Related Diseases Related Diseases


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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.

Research Research


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Research helps us better understand diseases and can lead to advances in diagnosis and treatment. This section provides resources to help you learn about medical research and ways to get involved.

Clinical Research Resources

  • Orphanet lists European clinical trials, research studies, and patient registries enrolling people with this condition. 

Organizations Organizations


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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 Supporting this Disease

  • Muscular Dystrophy Association (MDA)
    222 S Riverside Plaza
    Suite 1500
    Chicago, IL 60606
    Toll-free: 1-833-275-6321 (Helpline)
    E-mail: resourcecenter@mdausa.org
    Website: https://www.mda.org
  • Muscular Dystrophy UK
    61A Great Suffolk Street
    London, SE1 0BU United Kingdom
    Toll-free: 0800 652 6352 (Helpline)
    Telephone: (+44) 0 020 7803 4800
    E-mail: info@musculardystrophyuk.org
    Website: https://www.musculardystrophyuk.org/
Do you know of an organization? We want to hear from you.

Learn More Learn More


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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 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.

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.
  • 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.

Selected Full-Text Journal Articles

  • 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.

GARD Answers GARD Answers


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Questions sent to GARD may be posted here if the information could be helpful to others. We remove all identifying information when posting a question to protect your privacy. If you do not want your question posted, please let us know. Submit a new question

  • Any current research? See answer


Have a question? Contact a GARD Information Specialist.

References References


  1. Laing distal myopathy. Genetics Home Reference. December 2016; http://ghr.nlm.nih.gov/condition/laing-distal-myopathy.
  2. Lamont P, Laing NG.. Laing Distal Myopathy. GeneReviews. March 12, 2015; https://www.ncbi.nlm.nih.gov/books/NBK1433/.
Do you know of a review article? We want to hear from you.
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