A family with early-onset and rapidly progressive X-linked spinal and bulbar muscular atrophy.
Spinal and bulbar muscular atrophy (SBMA) is an X-linked, late-onset neuroendocrine disorder resulting from an expansion of a CAG repeat in the androgen receptor gene. Reported here is a detailed phenotypic study in a series of seven patients from the same family with SBMA with 50 to 54 CAG repeats, juvenile onset (mean age at onset 13 years [8 to 15 years]), and rapid progression leading to compromised ambulation in the mid-20s.
Echaniz-Laguna
A
A
Département de Neurologie, Hôpital Civil de Strasbourg, 1 Place de l'Hôpital, BP426, 67091 Strasbourg, France. Echaniz-Laguna@medecine.u-strasbg.fr
Rousso
E
E
Anheim
M
M
Cossée
M
M
Tranchant
C
C
D000293:Adolescent; D000328:Adult; D017668:Age of Onset; D001933:Brain Stem / Q000473:pathology / Q000503:physiopathology*; D003402:Creatine Kinase / Q000097:blood; D004252:DNA Mutational Analysis; D018450:Disease Progression; D005260:Female; D040181:Genetic Diseases, X-Linked / Q000235:genetics / Q000473:pathology / Q000503:physiopathology*; D005820:Genetic Testing; D006801:Humans; D008279:Magnetic Resonance Imaging; D008297:Male; D018482:Muscle, Skeletal / Q000294:innervation / Q000503:physiopathology; D009133:Muscular Atrophy / Q000235:genetics / Q000473:pathology / Q000503:physiopathology; D009134:Muscular Atrophy, Spinal / Q000235:genetics / Q000473:pathology / Q000503:physiopathology*; D009154:Mutation / Q000235:genetics*; D009431:Neural Conduction / Q000235:genetics; D010375:Pedigree; D010525:Peripheral Nerves / Q000503:physiopathology; D010641:Phenotype; D011379:Prognosis; D013116:Spinal Cord / Q000473:pathology / Q000503:physiopathology*; D019680:Trinucleotide Repeat Expansion / Q000235:genetics
D003402:Creatine Kinase