Living with Sterol carrier protein 2 deficiency
A rare inherited nerve condition with head tremor, neck twisting, hearing and smell problems, and hormone changes.
Understanding Sterol carrier protein 2 deficiency
It is a peroxisomal disorder that affects the brain and nerves. Features include neck twisting (torticollis), head tremor, shaking when reaching, and shaky eye movements. People may also have a reduced sense of smell and low sex hormone function, with no sperm in semen. Some have mild balance and walking problems. Signs may begin in childhood.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Twisted neck (torticollis)
- Head tremor and tremor when reaching
- Muscle stiffness or twisting (dystonia)
- Nerve damage in the limbs (neuropathy)
- Hearing loss and reduced sense of smell
- Low sex hormone function
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 SCP2 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
United Leukodystrophy Foundation 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: United Leukodystrophy Foundation
- 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 United Leukodystrophy Foundation
- 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
Changes in the SCP2 gene cause this condition. It is autosomal recessive, meaning a child inherits a changed copy of the gene from each parent.
Also known as: deficiency of sterol carrier protein x; leukoencephalopathy with dystonia and motor neuropathy; leukoencephalopathy-dystonia-motor neuropathy syndrome; leukoencephalopathy, dystonia, motor neuropathy syndrome; scp2 deficiency; scpx (sterol carrier protein x) deficiency
Patient organizations
- United Leukodystrophy FoundationLeukodystrophies · United States
Broader rare-disease groups
- 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 Sterol carrier protein 2 deficiency.
Explore research for Sterol carrier protein 2 deficiency
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