Overview
Autosomal recessive lethal neonatal axonal sensorimotor polyneuropathy is an extremely rare and severe inherited nerve disease that affects newborn babies. It belongs to a group of conditions called peripheral neuropathies, which means the nerves that carry signals between the brain, spinal cord, and the rest of the body stop working properly. In this condition, the axons — the long, wire-like parts of nerve cells that transmit signals — are damaged or fail to develop correctly. This affects both sensory nerves (which carry feelings like touch and pain) and motor nerves (which control muscle movement). Babies born with this condition typically show signs at birth or within the first days of life. These signs include very weak or floppy muscles, little or no movement of the limbs, difficulty breathing, and poor or absent reflexes. Because the breathing muscles are affected, babies often need immediate medical support to breathe. The condition is described as 'lethal neonatal,' meaning it is life-threatening in the newborn period and sadly most affected babies do not survive beyond the first weeks or months of life. There is currently no cure for this condition. Treatment focuses on keeping the baby as comfortable as possible and supporting vital functions such as breathing. Families are encouraged to work closely with a team of specialists and to seek genetic counseling to understand the risk of the condition occurring in future pregnancies.
Key symptoms:
Extremely weak or floppy muscle tone at birth (hypotonia)Little or no movement of the arms and legsAbsent or very reduced reflexesDifficulty breathing or inability to breathe without supportDifficulty feeding or swallowingReduced or absent response to touch and painMuscle wasting (muscles appear very thin or underdeveloped)Abnormal or absent eye movements in some casesVery low heart rate or unstable vital signs
Autosomal recessive
Passed on when both parents carry the same gene change; often skips generations
Neonatal
Begins at or shortly after birth (first 4 weeks)
Treatments
No FDA-approved treatments are currently listed for Autosomal recessive lethal neonatal axonal sensorimotor polyneuropathy.
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Specialists
View all specialists →No specialists are currently listed for Autosomal recessive lethal neonatal axonal sensorimotor polyneuropathy.
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 Autosomal recessive lethal neonatal axonal sensorimotor polyneuropathy.
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Caregiver Resources
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Questions for your doctor
Bring these to your next appointment
- Q1.What specific gene or genetic change caused this condition in our baby, and have you been able to identify it through testing?,What does the nerve conduction study or biopsy show, and what does that mean for our baby's prognosis?,What are our options for keeping our baby comfortable, and how can palliative care help our family?,What is the chance that a future pregnancy would be affected by the same condition?,Are there any research studies or registries we could participate in to help advance understanding of this disease?,Can you refer us to a genetic counselor and a psychologist or social worker to help our family through this?,Are there any other families or rare disease organizations that could connect us with people who have been through a similar experience?
Common questions about Autosomal recessive lethal neonatal axonal sensorimotor polyneuropathy
What is Autosomal recessive lethal neonatal axonal sensorimotor polyneuropathy?
Autosomal recessive lethal neonatal axonal sensorimotor polyneuropathy is an extremely rare and severe inherited nerve disease that affects newborn babies. It belongs to a group of conditions called peripheral neuropathies, which means the nerves that carry signals between the brain, spinal cord, and the rest of the body stop working properly. In this condition, the axons — the long, wire-like parts of nerve cells that transmit signals — are damaged or fail to develop correctly. This affects both sensory nerves (which carry feelings like touch and pain) and motor nerves (which control muscle m
How is Autosomal recessive lethal neonatal axonal sensorimotor polyneuropathy inherited?
Autosomal recessive lethal neonatal axonal sensorimotor polyneuropathy follows a autosomal recessive inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
At what age does Autosomal recessive lethal neonatal axonal sensorimotor polyneuropathy typically begin?
Typical onset of Autosomal recessive lethal neonatal axonal sensorimotor polyneuropathy is neonatal. Age of onset can vary across affected individuals.