Neurogenic scapuloperoneal syndrome, Kaeser type

Orpha code: 85146OMIM code: 181400

Definition

A rare, genetic, neuromuscular disease characterized by adult-onset muscle weakness and atrophy in a scapuloperoneal distribution, mild involvement of the facial muscles, dysphagia, and gynecomastia. Elevated serum CK levels and mixed myopathic and neurogenic abnormalities are associated clinical findings.

Disease data
Classification

Disease

Synonyms
Kaeser syndrome
Zespół Kaesera
Zespół Starka i Kaesera
Stark-Kaeser syndrome
ORPHA code
85146
OMIM code
181400
ICD10 code
G12.1
ICD11 code
-

No additional description.

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