Progressive encephalomyelitis with rigidity and myoclonus

Orpha code: 438266OMIM code: 184850

Definicja

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
Klasyfikacja

Clinical subtype

Synonimy
PERM
PERM
Kod ORPHA
438266
Kod OMIM
184850
Kod ICD10
G04.8
Kod ICD11
-

No additional description.

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