Overview
Vocal cord and pharyngeal distal myopathy (also known as VCPDM or Miehlke syndrome) is a rare inherited muscle disease that mainly affects the muscles in the throat, voice box, and the hands and feet. 'Distal myopathy' means the muscle weakness starts in the parts of the body farthest from the center — like the fingers, hands, lower legs, and feet — rather than the hips or shoulders. What makes this condition especially distinctive is that it also causes problems with the muscles that control swallowing and speaking, which is unusual for most muscle diseases. People with this condition often first notice a hoarse or weak voice, difficulty swallowing, or weakness in their hands and lower legs. Over time, the swallowing problems can become serious enough to affect nutrition and increase the risk of food or liquid entering the lungs. The voice changes are caused by weakness in the vocal cords, which are the small muscles in the throat that help produce sound. There is currently no cure for this condition. Treatment focuses on managing symptoms, protecting the airway, and maintaining quality of life. A team of specialists — including neurologists, speech therapists, and pulmonologists — work together to help patients stay as healthy and independent as possible. Early diagnosis is important so that swallowing and breathing problems can be monitored and treated before they become dangerous.
Key symptoms:
Hoarse or weak voiceDifficulty swallowing (food or liquids)Weakness in the hands and fingersWeakness in the lower legs and feetFoot drop (difficulty lifting the front part of the foot when walking)Nasal-sounding speechChoking or coughing when eating or drinkingWasting (thinning) of muscles in the hands and lower legsBreathing difficulties in later stagesUnintentional weight loss due to swallowing problems
Clinical phenotype terms (30)— hover any for plain English
Autosomal dominant
Passed on from just one parent; each child has about a 50% chance of inheriting it
Adult
Begins in adulthood (age 18 or older)
Treatments
No FDA-approved treatments are currently listed for Vocal cord and pharyngeal distal myopathy.
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Specialists
View all specialists →No specialists are currently listed for Vocal cord and pharyngeal distal myopathy.
Treatment Centers
8 centersBaylor College of Medicine Rare Disease Center ↗
Baylor College of Medicine
📍 Houston, TX
🏥 NORDStanford Medicine Rare Disease Center ↗
Stanford Medicine
📍 Stanford, CA
🔬 UDNNIH Clinical Center Undiagnosed Diseases Program ↗
National Institutes of Health
📍 Bethesda, MD
🔬 UDNUCLA UDN Clinical Site ↗
UCLA Health
📍 Los Angeles, CA
🔬 UDNBaylor College of Medicine UDN Clinical Site ↗
Baylor College of Medicine
📍 Houston, TX
🔬 UDNHarvard/MGH UDN Clinical Site ↗
Massachusetts General Hospital
📍 Boston, MA
🏥 NORDMayo Clinic Center for Individualized Medicine ↗
Mayo Clinic
📍 Rochester, MN
👤 Mayo Clinic Center for Individualized Medicine
🏥 NORDUCLA Rare Disease Day Program ↗
UCLA Health
📍 Los Angeles, CA
Travel Grants
No travel grants are currently matched to Vocal cord and pharyngeal distal myopathy.
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Caregiver Resources
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Family & Caregiver Grants
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Social Security Disability
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Questions for your doctor
Bring these to your next appointment
- Q1.Which specific mutation in the MATR3 gene do I have, and what does that mean for how my disease might progress?,How often should I have my swallowing and breathing function tested?,At what point would you recommend a feeding tube, and what does that process involve?,Are there any clinical trials or research studies I could participate in?,Should my family members be tested for this condition, and what are the chances they could be affected?,What signs should prompt me to go to the emergency room?,What specialists should be part of my care team, and how often should I see each of them?
Common questions about Vocal cord and pharyngeal distal myopathy
What is Vocal cord and pharyngeal distal myopathy?
Vocal cord and pharyngeal distal myopathy (also known as VCPDM or Miehlke syndrome) is a rare inherited muscle disease that mainly affects the muscles in the throat, voice box, and the hands and feet. 'Distal myopathy' means the muscle weakness starts in the parts of the body farthest from the center — like the fingers, hands, lower legs, and feet — rather than the hips or shoulders. What makes this condition especially distinctive is that it also causes problems with the muscles that control swallowing and speaking, which is unusual for most muscle diseases. People with this condition often
How is Vocal cord and pharyngeal distal myopathy inherited?
Vocal cord and pharyngeal distal myopathy follows a autosomal dominant inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
At what age does Vocal cord and pharyngeal distal myopathy typically begin?
Typical onset of Vocal cord and pharyngeal distal myopathy is adult. Age of onset can vary across affected individuals.