Peripheral motor neuropathy-dysautonomia syndrome

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ORPHA:2400OMIM:252320G60.8
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3Specialists8Treatment centers

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

Peripheral motor neuropathy-dysautonomia syndrome is an extremely rare condition that affects both the peripheral motor nerves and the autonomic nervous system. The peripheral motor nerves are the nerves that control voluntary muscle movement in the arms and legs, while the autonomic nervous system controls automatic body functions like heart rate, blood pressure, sweating, digestion, and bladder control. When both systems are affected, patients experience progressive muscle weakness and wasting (particularly in the hands and feet) along with problems regulating these automatic body functions. Symptoms typically include weakness in the limbs that may start in the feet and hands and gradually spread, difficulty with balance and walking, abnormal sweating, episodes of low blood pressure upon standing (orthostatic hypotension), digestive problems, and urinary difficulties. The severity and progression can vary between individuals. Because this condition is so rare, treatment is mainly supportive and symptom-based. There is no known cure. Management focuses on physical therapy to maintain muscle strength and mobility, medications to manage blood pressure instability and other autonomic symptoms, and assistive devices as needed. A multidisciplinary team of specialists is usually required to address the various aspects of this syndrome.

Also known as:

Key symptoms:

Progressive muscle weakness in hands and feetMuscle wasting (loss of muscle bulk)Difficulty walking or balance problemsDizziness or fainting when standing upAbnormal sweating (too much or too little)Digestive problems such as constipation or diarrheaBladder control difficultiesNumbness or tingling in the extremitiesRapid or irregular heartbeatDifficulty with fine motor tasks like buttoning clothesFatigueFoot deformities such as high arches or hammertoesLow blood pressure episodes

Clinical phenotype terms (7)— hover any for plain English
AcrocyanosisHP:0001063AchalasiaHP:0002571
Age of Onset

Variable

Can begin at different ages, from infancy through adulthood

Orphanet ↗OMIM ↗NORD ↗

Treatments

No FDA-approved treatments are currently listed for Peripheral motor neuropathy-dysautonomia syndrome.

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No actively recruiting trials found for Peripheral motor neuropathy-dysautonomia syndrome at this time.

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Specialists

3 foundView all specialists →
MP
Michael Trujillo, PhD
Specialist
PI on 1 active trial

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 Peripheral motor neuropathy-dysautonomia syndrome.

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Community

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Caregiver Resources

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Social Security Disability

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Questions for your doctor

Bring these to your next appointment

  • Q1.What tests will be done to confirm this diagnosis and rule out other conditions?,How quickly might symptoms progress in my case?,What medications or therapies can help manage my autonomic symptoms?,How often should I have follow-up appointments and with which specialists?,Are there any clinical trials or research studies I could participate in?,What should I do if I faint or have a severe drop in blood pressure?,What lifestyle changes can help me manage my symptoms day to day?

Common questions about Peripheral motor neuropathy-dysautonomia syndrome

What is Peripheral motor neuropathy-dysautonomia syndrome?

Peripheral motor neuropathy-dysautonomia syndrome is an extremely rare condition that affects both the peripheral motor nerves and the autonomic nervous system. The peripheral motor nerves are the nerves that control voluntary muscle movement in the arms and legs, while the autonomic nervous system controls automatic body functions like heart rate, blood pressure, sweating, digestion, and bladder control. When both systems are affected, patients experience progressive muscle weakness and wasting (particularly in the hands and feet) along with problems regulating these automatic body functions.

Which specialists treat Peripheral motor neuropathy-dysautonomia syndrome?

3 specialists and care centers treating Peripheral motor neuropathy-dysautonomia syndrome are listed on UniteRare, sourced from ClinicalTrials.gov principal investigators, published research, and the NPPES NPI registry.