Living with Neurogenic scapuloperoneal syndrome, Kaeser type
A rare inherited nerve and muscle condition with weakness in the shoulder and lower leg muscles that starts in adulthood.
Understanding Neurogenic scapuloperoneal syndrome, Kaeser type
People have muscle weakness and wasting that affects the shoulder and lower leg muscles (scapuloperoneal pattern). Facial muscles are mildly affected. Other findings include trouble swallowing and enlarged breast tissue in men (gynecomastia). Blood tests show a high level of the muscle enzyme CK.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Weakness in the shoulder and lower leg muscles
- Wasting of the shoulder muscles
- Enlarged breast tissue in men (gynecomastia)
- Foot drop (less common)
- Trouble swallowing (less common)
- Mild weakness in the face (less common)
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 DES 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
Muscular Dystrophy Association 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: Muscular Dystrophy Association
- 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 Muscular Dystrophy Association
- 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
GARD lists changes in the DES gene. The condition is autosomal dominant, which means one changed copy of the gene can be enough to cause it.
Also known as: kaeser syndrome; neurogenic scapuloperoneal syndrome kaeser type; scpnk; stark kaeser syndrome; stark-kaeser syndrome
Patient organizations
- Muscular Dystrophy AssociationNeurogenic scapuloperoneal syndrome, Kaeser type · United States
You are more than your diagnosis
Perspectives from people navigating life with Neurogenic scapuloperoneal syndrome, Kaeser type.
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