Preferred Label : Dystonia with ringbinden;
Type : Other, mainly phenotypes with suspected mendelian basis;
Description : A nonprogressive disorder with multiple mild flexion contractures developing in infancy
was described in 2 brothers by Fenichel et al. (1971). Motor strength was normal.
Lower limb tendon reflexes were exaggerated but plantar responses were flexor. Associated
findings were borderline normal intelligence, speech defect, choreic movements of
the outstretched hands, normal cranial nerve, sensory and cerebellar functions, and
EEGs indicating paroxysmal disorder. CPK was elevated in the younger boy. Muscle biopsies
showed decreased fiber size, especially of the ATPase positive type (A fibers), increased
amounts of PAS positive material, and 'Ringbinden,' without typical myopathic or neuropathic
changes. The authors interpreted the findings as the result of a primary cerebral
disorder. *FIELD* RF 1. Fenichel, G. M.; Olson, W. H.; Kilroy, A. W.: Hereditary dystonia
associated with unique features in skeletal muscle. Arch. Neurol. 25: 552-559, 1971.
*FIELD* CS Autosomal recessive;
Inheritance : Autosomal recessive;
Prefixed ID : 224550;
Origin ID : 224550;
UMLS CUI : C1857089;
Currated CISMeF NLP mapping
- HPO term(s)
- Semantic type(s)
- UMLS correspondences (same concept)
