Onset Manifestations of Spinal and Bulbar Muscular Atrophy (Kennedy's Disease).
Spinal and bulbar muscular atrophy (SBMA) is regarded as a disorder with adult onset between third and fifth decade of life. However, there is increasing evidence that SBMA may start already before adulthood. The present study investigated the following: (1) Which clinical manifestations have been described so far in the literature as initial manifestations? (2) Which was the age at onset of these manifestations? and (3) Is age at onset dependent on the CAG-repeat length if non-motor manifestations are additionally considered? Data for this review were identified by searches of MEDLINE using appropriate search terms. Onset manifestations in SBMA can be classified as frequent, rare, motor, non-motor, or questionable. Frequent are muscle weakness, cramps, fasciculations/twitching, tremor, dysarthria, dysphagia, or gynecomastia. Rare are myalgia, easy fatigability, exercise intolerance, polyneuropathy, hyper-CKemia, under-masculinized genitalia, scrotal hypospadias, microphallus, laryngospasm, or oligospermia. Questionable manifestations include sensory disturbances, cognitive impairment, increased pituitary volume, diabetes, reduced tongue pressure, elevated creatine-kinase, or low androgens/high estrogens. Age at onset is highly variable ranging from 4-76 years. Non-motor manifestations develop usually before motor manifestations. Age at onset depends on what is considered as an onset manifestation. Considering non-motor onset manifestations, age at onset is independent of the CAG-repeat size. In conclusion, age at onset of SBMA depends on what is regarded as onset manifestation. If non-motor manifestations are additionally considered, age at onset is independent of the CAG-repeat length. Since life expectancy is hardly reduced in SBMA, re-investigation of patients from published studies with regard to their initial disease profiles is recommended.
Krankenanstalt Rudolfstiftung, Postfach 20, 1180, Vienna, Austria. fifigs1@yahoo.de.
Josef
J
Finsterer
Department of Neurosciences, University of Padova, Padova, Italy.
Gianni
G
Soraru
D000293:Adolescent; D000328:Adult; D000368:Aged; D055534:Bulbo-Spinal Atrophy, X-Linked / Q000175:diagnosis* / Q000453:epidemiology / Q000235:genetics; D005820:Genetic Testing; D006801:Humans; D008297:Male; D008875:Middle Aged; D009460:Neurologic Examination
Bulbar functions; Bulbospinal neuronopathy; CAG-repeats; Early symptoms; Initial manifestations; Kennedy’s disease; Motor neuron disease; Poly-Q; Spinal and bulbar muscular atrophy; Spinobulbar muscular atrophy