Progressive encephalomyelitis with rigidity and myoclonus

Orpha code: 438266OMIM code: 184850

Definition

A rare stiff person syndrome spectrum disorder characterized by limb and truncal rigidity, stimulus-sensitive spasms, myoclonus, hyperekplexia, autonomic disturbance, and brainstem involvement or other neurological defects. The condition is progressive and potentially life-threatening, especially due to respiratory failure. It may be associated with the presence of glycine receptor or glutamic acid decarboxylase antibodies, as well as thymomas or lymphomas.

Disease data
Classification

Clinical subtype

Synonyms
PERM
PERM
ORPHA code
438266
OMIM code
184850
ICD10 code
G04.8
ICD11 code
-

No additional description.

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