Rare Nephrology News

Disease Profile

Laing distal myopathy

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

Childhood

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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)

Laing early-onset distal myopathy; Myopathy distal, type 1

Categories

Congenital and Genetic Diseases; Nervous System Diseases

Summary

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]

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
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

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

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

    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 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

            References

            1. Laing distal myopathy. Genetics Home Reference. December 2016; https://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/.