Living with Lower motor neuron syndrome with late-adult onset
A rare inherited nerve and muscle condition with slowly worsening weakness, cramps, and muscle twitching starting in adulthood.
Understanding Lower motor neuron syndrome with late-adult onset
It causes slowly progressing weakness and wasting of muscles, mainly near the center of the body. It begins with muscle cramps, twitching (fasciculations), reduced reflexes, and hand tremor. Later, walking ability may be reduced and vibration sense impaired.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Muscle cramps from exercise or cold
- Weakness in the lower legs
- Reduced or absent reflexes
- Calf muscle pain
- Unsteady walking
- Increased fat in muscles
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 CHCHD10 are linked to this condition. Genetic testing and counseling can help confirm a diagnosis and explain what it means for your family.
Care & treatment
- Care team
- Brain and nervous system specialists (neurologists); Genetic specialists (geneticists)
- Expert care
- Ask about multidisciplinary care centers for rare conditions
- 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 rare disease patient organizations for support
- 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 CHCHD10 gene. A person can have it after inheriting one changed copy of the gene (autosomal dominant).
Also known as: late-onset spinal motor neuronopathy; losmon; smaj; spinal muscular atrophy, jokela type
Patient organizations
Rare-disease groups that can help
- Global GenesRare Diseases · United States
- National Organization for Rare DisordersRare Diseases · United States
- Genetic AllianceRare Diseases · United States
- RARE FoundationRare Diseases · United States
You are more than your diagnosis
Perspectives from people navigating life with Lower motor neuron syndrome with late-adult onset.
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