Laing distal myopathy

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ORPHA:59135OMIM:160500G71.0
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2Specialists8Treatment centers

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UniteRare data is sourced from FDA.gov, ClinicalTrials.gov, Orphanet, OMIM, and NORD.
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Overview

Laing distal myopathy (also called Laing myopathy or MPD1) is a rare inherited muscle disease that mainly affects the muscles farthest from the center of the body — such as those in the feet, lower legs, and hands. It is caused by changes (mutations) in the MYH7 gene, which provides instructions for making a protein called slow myosin heavy chain, an important building block of muscle fibers. Because this protein is also found in the heart, some people with Laing myopathy may have mild heart involvement as well. The disease usually begins in childhood, though the age when symptoms first appear can vary. One of the most recognizable early signs is weakness in the muscles that lift the front of the foot, making it hard to walk normally — a problem called foot drop. Weakness can slowly spread to the hands, neck, and other muscles over time. Most people with Laing myopathy progress slowly and continue to walk throughout their lives, though some may eventually need mobility aids. There is currently no cure for Laing myopathy. Treatment focuses on managing symptoms and maintaining quality of life. Physical therapy, occupational therapy, and assistive devices like ankle-foot orthoses (braces) are the main tools used. Regular heart monitoring is also recommended. With good supportive care, many people with this condition live full and active lives.

Also known as:

Key symptoms:

Foot drop — difficulty lifting the front of the foot when walkingWeakness in the lower leg muscles, especially the shin areaWeakness in the hands and fingers, particularly in extending themWeakness in the neck muscles, making it hard to hold the head upSlow, gradual worsening of muscle weakness over timeAbnormal walking pattern or gait changesMild muscle wasting in the lower legs and handsPossible mild heart muscle involvement (cardiomyopathy) in some peopleDifficulty with fine hand movements like buttoning clothesFatigue with physical activity

Clinical phenotype terms (20)— hover any for plain English
Toe extensor amyotrophyHP:0011916Abnormal calf musculature morphologyHP:0001430Progressive muscle weaknessHP:0003323Minicore myopathyHP:0003789Type 1 muscle fiber predominanceHP:0003803Talipes cavus equinovarusHP:0004696Abnormal mitochondria in muscle tissueHP:0008316Weakness of orbicularis oculi muscleHP:0012507
Inheritance

Autosomal dominant

Passed on from just one parent; each child has about a 50% chance of inheriting it

Age of Onset

Childhood

Begins in childhood, roughly ages 1 to 12

Orphanet ↗OMIM ↗NORD ↗

FDA & Trial Timeline

1 event
Dec 2024Clinical Trial to Evaluate the Safety, Tolerability and Pharmacokinetics of MPD-1 in Patients With Advanced Solid Tumor

Pharosgen Co.,Ltd — PHASE1

TrialRECRUITING

Data sourced from FDA regulatory filings and ClinicalTrials.gov. Updated periodically.

Treatments

No FDA-approved treatments are currently listed for Laing distal myopathy.

View clinical trials →

No actively recruiting trials found for Laing distal myopathy at this time.

New trials open frequently. Follow this disease to get notified.

Search ClinicalTrials.gov ↗Join the Laing distal myopathy community →

Specialists

2 foundView all specialists →
SP
Sangyoon Kim, MD, PhD
NEW YORK, NY
Specialist
PI on 1 active trial
AM
Anna Ng-Pellegrino, MD
Specialist
PI on 1 active trial1 Laing distal myopathy publication

Treatment Centers

8 centers
🏥 NORD

Baylor College of Medicine Rare Disease Center

Baylor College of Medicine

📍 Houston, TX

🏥 NORD

Stanford Medicine Rare Disease Center

Stanford Medicine

📍 Stanford, CA

🔬 UDN

NIH Clinical Center Undiagnosed Diseases Program

National Institutes of Health

📍 Bethesda, MD

🔬 UDN

UCLA UDN Clinical Site

UCLA Health

📍 Los Angeles, CA

🔬 UDN

Baylor College of Medicine UDN Clinical Site

Baylor College of Medicine

📍 Houston, TX

🔬 UDN

Harvard/MGH UDN Clinical Site

Massachusetts General Hospital

📍 Boston, MA

🏥 NORD

Mayo Clinic Center for Individualized Medicine

Mayo Clinic

📍 Rochester, MN

👤 Mayo Clinic Center for Individualized Medicine

🏥 NORD

UCLA Rare Disease Day Program

UCLA Health

📍 Los Angeles, CA

Travel Grants

No travel grants are currently matched to Laing distal myopathy.

Search all travel grants →NORD Financial Assistance ↗

Community

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Latest news about Laing distal myopathy

Disease timeline:

New recruiting trial: Clinical Trial to Evaluate the Safety, Tolerability and Pharmacokinetics of MPD-1 in Patients With Advanced Solid Tumor

A new clinical trial is recruiting patients for Laing distal myopathy

Caregiver Resources

NORD Caregiver Resources

Support, advocacy, and financial assistance for caregivers of rare disease patients.

Mental Health Support

Rare disease caregiving can be isolating. Connect with counseling and peer support.

Family & Caregiver Grants

Financial assistance programs specifically for caregivers of rare disease patients.

Social Security Disability

Learn how rare disease patients may qualify for SSDI/SSI benefits.

Questions for your doctor

Bring these to your next appointment

  • Q1.What specific mutation was found in my MYH7 gene, and what does it mean for my prognosis?,How often should I have my heart checked, and what signs of heart problems should I watch for?,Should other family members be tested for this condition?,What type of physical therapy is most helpful for Laing myopathy, and how often should I go?,Are there any clinical trials or research studies I might be eligible for?,When should I consider using ankle braces or other mobility aids?,Should my breathing be monitored, and if so, how often?

Common questions about Laing distal myopathy

What is Laing distal myopathy?

Laing distal myopathy (also called Laing myopathy or MPD1) is a rare inherited muscle disease that mainly affects the muscles farthest from the center of the body — such as those in the feet, lower legs, and hands. It is caused by changes (mutations) in the MYH7 gene, which provides instructions for making a protein called slow myosin heavy chain, an important building block of muscle fibers. Because this protein is also found in the heart, some people with Laing myopathy may have mild heart involvement as well. The disease usually begins in childhood, though the age when symptoms first appea

How is Laing distal myopathy inherited?

Laing distal myopathy follows a autosomal dominant inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.

At what age does Laing distal myopathy typically begin?

Typical onset of Laing distal myopathy is childhood. Age of onset can vary across affected individuals.

Which specialists treat Laing distal myopathy?

2 specialists and care centers treating Laing distal myopathy are listed on UniteRare, sourced from ClinicalTrials.gov principal investigators, published research, and the NPPES NPI registry.