Living with Microcephaly-complex motor and sensory axonal neuropathy syndrome
An extremely rare inherited condition with a small head and nerve damage that causes weakness and muscle loss, with thinking skills intact.
Understanding Microcephaly-complex motor and sensory axonal neuropathy syndrome
It is a rare type of hereditary motor and sensory neuropathy (a condition affecting the nerves that control movement and feeling). It causes a severe nerve problem that progresses quickly, along with a small head that can be seen before birth. Thinking skills are intact. Features include delayed motor development, low muscle tone, weak or absent reflexes, muscle wasting and weakness, and a curved spine (scoliosis).
Signs & symptoms
GARD doesn't list a set of most common symptoms for this condition. Its summary describes these features:
- Smaller-than-average head size (microcephaly)
- Nerve damage that affects both sides of the body
- Delayed motor development
- Low muscle tone (hypotonia)
- Muscle wasting and weakness
- Curved spine (scoliosis)
Not everyone has every symptom. GARD's list comes from the Human Phenotype Ontology.
Diagnosis
- 1Talk with your doctor
Share the symptoms you've noticed, when they started and your family health history. Notes and photos can help.
- 2See a specialist
Specialists who may be involved include brain and nervous system specialists and genetic specialists.
- 3Consider genetic testing
Changes in VRK1 are linked to this condition. Genetic testing and counseling can help confirm a diagnosis and explain what it means for your family.
- 4Connect with expert centers
The Foundation for Peripheral Neuropathy may keep lists of experts for this condition.
Care & treatment
- Care team
- Brain and nervous system specialists (neurologists); Genetic specialists (geneticists)
- Expert care
- Expert lists: The Foundation for Peripheral Neuropathy
- Treatment
- GARD doesn't list specific treatments for this condition. Your care team will tailor care to your symptoms.
- Research
- Clinical trials and observational studies may be options. See the research section below.
General information, not medical advice. Your care team makes the decisions.
Everyday life
Living with a rare condition is easier with support.
- Connect with The Foundation for Peripheral Neuropathy and other patient organizations
- Keep notes on symptoms, changes and questions for appointments
- Ask about patient registries that help research
- Look into financial aid and travel resources for care visits
Quick facts
This condition is caused by changes in the VRK1 gene. It is autosomal recessive, which means a child inherits a changed copy of the gene from each parent.
Also known as: microcephalus, complex motor and sensory axonal neuropathy syndrome; microcephaly, complex motor and sensory axonal neuropathy syndrome
Patient organizations
- The Foundation for Peripheral NeuropathyPeripheral neuropathy · United States
- Neuropathy Action FoundationPeripheral neuropathy · United States
You are more than your diagnosis
Perspectives from people navigating life with Microcephaly-complex motor and sensory axonal neuropathy syndrome.
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