Overview
Microcephaly-complex motor and sensory axonal neuropathy syndrome is a very rare inherited neurological condition that affects the brain and the nerves throughout the body. 'Microcephaly' means that the head and brain are smaller than usual, which can affect thinking, learning, and development. The 'axonal neuropathy' part means that the long fibers of nerve cells — called axons — that carry signals between the brain, spinal cord, muscles, and skin are damaged. This affects both movement (motor nerves) and sensation (sensory nerves). People with this condition typically show signs from birth or very early in life. Common features include a small head size, delayed development, intellectual disability, muscle weakness, difficulty walking, and reduced ability to feel touch, pain, or temperature in the hands and feet. The combination of brain underdevelopment and nerve damage makes this a complex, multi-system neurological disorder. There is currently no cure for this syndrome. Care focuses on managing symptoms, supporting development, and improving quality of life through physical therapy, occupational therapy, and educational support. Because this condition is so rare, treatment is highly individualized and managed by a team of specialists.
Key symptoms:
Smaller than normal head size (microcephaly)Intellectual disability or learning difficultiesDelayed developmental milestones such as sitting, standing, or walkingMuscle weakness, especially in the arms and legsReduced or absent reflexesDifficulty walking or unsteady gaitNumbness or reduced sensation in the hands and feetMuscle wasting (loss of muscle bulk over time)Foot deformities such as high arches or curled toesDifficulty with fine motor tasks like writing or buttoning clothesSpeech and language delays
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 Microcephaly-complex motor and sensory axonal neuropathy syndrome.
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Specialists
View all specialists →No specialists are currently listed for Microcephaly-complex motor and sensory axonal neuropathy syndrome.
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 Microcephaly-complex motor and sensory axonal neuropathy syndrome.
Community
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Caregiver Resources
NORD Caregiver Resources
Support, advocacy, and financial assistance for caregivers of rare disease patients.
Mental Health Support
Rare disease caregiving can be isolating. Connect with counseling and peer support.
Family & Caregiver Grants
Financial assistance programs specifically for caregivers of rare disease patients.
Social Security Disability
Learn how rare disease patients may qualify for SSDI/SSI benefits.
Questions for your doctor
Bring these to your next appointment
- Q1.Which gene is causing this condition in my child, and what does that mean for other family members?,What therapies should we start right away, and how often should they happen?,Are there any clinical trials or research studies we could participate in?,What signs should prompt us to seek emergency care?,How is this condition likely to progress over time, and what should we expect as my child gets older?,Should other family members be tested for the gene change?,What educational and community support resources are available for our family?
Common questions about Microcephaly-complex motor and sensory axonal neuropathy syndrome
What is Microcephaly-complex motor and sensory axonal neuropathy syndrome?
Microcephaly-complex motor and sensory axonal neuropathy syndrome is a very rare inherited neurological condition that affects the brain and the nerves throughout the body. 'Microcephaly' means that the head and brain are smaller than usual, which can affect thinking, learning, and development. The 'axonal neuropathy' part means that the long fibers of nerve cells — called axons — that carry signals between the brain, spinal cord, muscles, and skin are damaged. This affects both movement (motor nerves) and sensation (sensory nerves). People with this condition typically show signs from birth
How is Microcephaly-complex motor and sensory axonal neuropathy syndrome inherited?
Microcephaly-complex motor and sensory axonal neuropathy syndrome follows a autosomal recessive inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
At what age does Microcephaly-complex motor and sensory axonal neuropathy syndrome typically begin?
Typical onset of Microcephaly-complex motor and sensory axonal neuropathy syndrome is neonatal. Age of onset can vary across affected individuals.