Overview
Hereditary sensorimotor neuropathy with hyperelastic skin is an extremely rare genetic condition that combines two main problems: nerve damage affecting sensation and movement (sensorimotor neuropathy) and unusually stretchy, elastic skin. The nerve damage part of this condition is similar to what is seen in Charcot-Marie-Tooth disease (CMT), which is the most common inherited nerve disorder. Patients typically experience progressive weakness and loss of feeling in the hands and feet, along with skin that stretches more than normal and may bruise easily. The skin features overlap with those seen in Ehlers-Danlos syndrome. Symptoms usually begin in childhood or adolescence and tend to worsen slowly over time. The nerve damage can lead to difficulty walking, foot deformities such as high arches or hammertoes, and problems with fine motor skills in the hands. The hyperelastic skin may also be fragile and heal poorly after injuries. Some patients may have joint hypermobility, meaning their joints bend more than usual. There is currently no cure for this condition. Treatment focuses on managing symptoms and maintaining quality of life. Physical therapy, occupational therapy, braces or orthotics for the feet and ankles, and pain management are the main approaches. Skin care is also important to prevent injuries and promote healing. Regular monitoring by a team of specialists helps address the various aspects of this complex condition.
Key symptoms:
Progressive weakness in the feet and legsProgressive weakness in the handsNumbness or reduced sensation in the hands and feetUnusually stretchy or elastic skinSkin that bruises easilyPoor wound healingHigh foot arches (pes cavus)Hammertoes or other foot deformitiesDifficulty walking or frequent trippingJoint hypermobility or loose jointsMuscle wasting in the lower legsTingling or burning sensations in the extremitiesReduced reflexesDifficulty with fine motor tasks like buttoning clothes
Autosomal dominant
Passed on from just one parent; each child has about a 50% chance of inheriting it
Childhood
Begins in childhood, roughly ages 1 to 12
Treatments
No FDA-approved treatments are currently listed for Hereditary sensorimotor neuropathy with hyperelastic skin.
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Specialists
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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 Hereditary sensorimotor neuropathy with hyperelastic skin.
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Caregiver Resources
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Questions for your doctor
Bring these to your next appointment
- Q1.What specific genetic testing should be done to confirm the diagnosis?,How quickly is this condition likely to progress in my case?,What medications should I avoid because they could worsen nerve damage?,What physical therapy program would be most helpful?,Are there any clinical trials or research studies I could participate in?,How should I care for my skin to prevent injuries and promote healing?,What signs should prompt me to seek urgent medical attention?
Common questions about Hereditary sensorimotor neuropathy with hyperelastic skin
What is Hereditary sensorimotor neuropathy with hyperelastic skin?
Hereditary sensorimotor neuropathy with hyperelastic skin is an extremely rare genetic condition that combines two main problems: nerve damage affecting sensation and movement (sensorimotor neuropathy) and unusually stretchy, elastic skin. The nerve damage part of this condition is similar to what is seen in Charcot-Marie-Tooth disease (CMT), which is the most common inherited nerve disorder. Patients typically experience progressive weakness and loss of feeling in the hands and feet, along with skin that stretches more than normal and may bruise easily. The skin features overlap with those se
How is Hereditary sensorimotor neuropathy with hyperelastic skin inherited?
Hereditary sensorimotor neuropathy with hyperelastic skin follows a autosomal dominant inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
At what age does Hereditary sensorimotor neuropathy with hyperelastic skin typically begin?
Typical onset of Hereditary sensorimotor neuropathy with hyperelastic skin is childhood. Age of onset can vary across affected individuals.