title: [Three siblings of painful muscle cramps (generalized muscle cramp disease) with alopecia and endocrinological disorders].
abstract: Three siblings with generalized painful muscle cramps, generalized alopecia, and endocrinological abnormalities are presented. Their clinical features are very similar to those in sporadic cases reported as having generalized muscle cramp disease. Autosomal recessive inheritance was suggested in our patients. Abnormal laboratory tests include hypersecretion of insulin after glucose loading, elevated levels of luteinizing hormone (LH) and follicular stimulating hormone (FSH), and hypersecretion of LH in the LH-RH test. An elevation of IgG and IgG index in the cerebrospinal fluid (CSF) of two patients suggests IgG production in the CSF. Oral administration of 75 to 150 mg of dantrolene sodium decreased the frequency, intensity, and duration of cramps in all cases. Autoimmune mechanisms based upon hereditary abnormalities are suggested as a cause of their disease.
authors.affiliation: Department of Neurology, Iwate Medical University.
authors.forename: J
authors.initials: J
authors.lastname: Takahashi
authors.forename: S
authors.initials: S
authors.lastname: Takahashi
authors.forename: T
authors.initials: T
authors.lastname: Kikuchi
authors.forename: M
authors.initials: M
authors.lastname: Nakanishi
authors.forename: H
authors.initials: H
authors.lastname: Tohgi
mesh_terms: D000328:Adult; D000505:Alopecia / Q000235:genetics*; D004700:Endocrine System Diseases / Q000235:genetics* / Q000378:metabolism; D005192:Family Health; D005640:Follicle Stimulating Hormone / Q000378:metabolism; D005808:Genes, Recessive; D006801:Humans; D007328:Insulin / Q000378:metabolism; D000078790:Insulin Secretion; D007986:Luteinizing Hormone / Q000378:metabolism; D008297:Male; D008875:Middle Aged; D009120:Muscle Cramp / Q000235:genetics* / Q000503:physiopathology; D010146:Pain
chemical_list: D007328:Insulin; D007986:Luteinizing Hormone; D005640:Follicle Stimulating Hormone