Living with Severe early-onset axonal neuropathy due to MFN2 deficiency
A rare inherited nerve condition starting before age 10 with weakness and wasting in the legs and later the arms, plus hearing and vision problems.
Understanding Severe early-onset axonal neuropathy due to MFN2 deficiency
It starts before age 10 with progressive weakness and wasting of the lower leg muscles, later of the arms. This can cause foot and wrist drop, missing reflexes, a curved spine, and high-arched feet. People may have mild loss of sensation, optic nerve damage, and hearing loss. Wheelchair use is usual by adolescence, and breathing muscles can be affected.
Signs & symptoms
GARD doesn't list a symptom list for this condition. Its summary describes these:
- Weakness and wasting in the legs, then arms
- Foot and wrist drop
- Missing reflexes
- Curved spine and high-arched feet
- Hearing loss and optic nerve damage
- Reduced vibration sense
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 MFN2 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
It is caused by changes in the MFN2 gene. It is autosomal recessive, so a child inherits a changed copy of the gene from each parent.
Also known as: ar-cmt2, ouvrier type; autosomal recessive charcot-marie-tooth disease ouvrier type; autosomal recessive charcot-marie-tooth disease, ouvrier type; seoan due to mfn2 deficiency; severe early-onset axonal neuropathy due to mfn2 (mitofusin 2) deficiency; severe early-onset axonal neuropathy due to mitofusin 2 deficiency
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 Severe early-onset axonal neuropathy due to MFN2 deficiency.
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