Autosomal dominant slowed nerve conduction velocity

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ORPHA:140481OMIM:608236G60.0
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Overview

Autosomal dominant slowed nerve conduction velocity is a rare inherited peripheral neuropathy classified within the spectrum of Charcot-Marie-Tooth disease type 1 (CMT1) and related demyelinating neuropathies. It is characterized by uniformly reduced motor nerve conduction velocities (typically below 38 m/s in the median nerve), indicating impaired myelin function in peripheral nerves. This condition is mapped under the broader category of hereditary motor and sensory neuropathies (HMSN) and is classified with ICD-10 code G60.0 (hereditary motor and sensory neuropathy). The disease primarily affects the peripheral nervous system, leading to progressive weakness and atrophy of distal muscles, particularly in the lower legs and feet, as well as the hands. Patients may experience sensory loss, reduced or absent deep tendon reflexes, foot deformities such as pes cavus (high-arched feet) and hammer toes, and difficulty with fine motor tasks. Onset is typically in childhood or adolescence, though severity and progression can vary considerably even within the same family. Some individuals may remain mildly affected, while others develop significant disability over time. There is currently no cure for autosomal dominant slowed nerve conduction velocity. Management is supportive and multidisciplinary, including physical therapy to maintain muscle strength and flexibility, occupational therapy for hand function, orthotic devices (such as ankle-foot orthoses) to improve gait, and surgical intervention for severe skeletal deformities when necessary. Pain management may be needed for neuropathic symptoms. Genetic counseling is recommended for affected families, as each child of an affected individual has a 50% chance of inheriting the condition.

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 ↗

Treatments

No FDA-approved treatments are currently listed for Autosomal dominant slowed nerve conduction velocity.

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No specialists are currently listed for Autosomal dominant slowed nerve conduction velocity.

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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

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Common questions about Autosomal dominant slowed nerve conduction velocity

What is Autosomal dominant slowed nerve conduction velocity?

Autosomal dominant slowed nerve conduction velocity is a rare inherited peripheral neuropathy classified within the spectrum of Charcot-Marie-Tooth disease type 1 (CMT1) and related demyelinating neuropathies. It is characterized by uniformly reduced motor nerve conduction velocities (typically below 38 m/s in the median nerve), indicating impaired myelin function in peripheral nerves. This condition is mapped under the broader category of hereditary motor and sensory neuropathies (HMSN) and is classified with ICD-10 code G60.0 (hereditary motor and sensory neuropathy). The disease primarily

How is Autosomal dominant slowed nerve conduction velocity inherited?

Autosomal dominant slowed nerve conduction velocity follows a autosomal dominant inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.

At what age does Autosomal dominant slowed nerve conduction velocity typically begin?

Typical onset of Autosomal dominant slowed nerve conduction velocity is childhood. Age of onset can vary across affected individuals.