X-Linked Spinal and Bulbar Muscular Atrophy of Late Onset (Kennedy-Stefanis Disease?)

Papapetropoulos, Thodoros; Panayiotopoulos, C. P.

doi:10.1159/000115283

Cited by 13 publications

(3 citation statements)

References 5 publications

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“…This patient also showed some degree of "decrement" in the brachial biceps muscle together with increased jitter in the forearm extensors. Similar episodes of transient weakness were reported previously (18,21,22). These authors did not find any decrement in the compound muscle action potential in response to repetitive supramaximal nerve stimulation.…”

Section: Discussionsupporting

confidence: 89%

X-linked bulbospinal muscular atrophy (Kennedy's syndrome): a report of three cases

Ertekin¹,

Şirin²

2009

Acta Neurologica Scandinavica

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Two cases of X‐linked bulbo‐spinal muscular atrophy and one sporadic case with the same clinical features are presented. All three cases were extensively studied by electrophysiological methods. One of the patients showed some transient weakness, which was partly improved by pyridostigmin. In this patient the Decrement test and jitter revealed a mild degree of motor‐end plate dysfunction. Clinical and electrophysiological findings obtained from all three patients suggest that in Kennedy syndrome cell bodies of group IA muscle afferents are also affected selectively, with other peripheral afferents.

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Section: Discussionsupporting

confidence: 89%

X-linked bulbospinal muscular atrophy (Kennedy's syndrome): a report of three cases

Ertekin¹,

Şirin²

2009

Acta Neurologica Scandinavica

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“…We did not perform repeated tests or practice sessions, because patients with SBMA have severe fatigability, which might produce unstable data and cause safety problems. 26,30,35 In addition to the 6MWD, we also recorded the Borg scale before and after the 6MWT.…”

Section: Participantsmentioning

confidence: 99%

Walking capacity evaluated by the 6‐minute walk test in spinal and bulbar muscular atrophy

et al. 2008

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Spinal and bulbar muscular atrophy (SBMA) is an adult-onset motor neuron disease caused by a CAG repeat expansion in the androgen receptor gene. Because the progression of SBMA is slow, it is plausible to identify biomarkers that monitor disease course for therapeutic development. To verify whether the 6-min walk test (6MWT) is a biomarker of SBMA, we performed the 6MWT in 35 genetically confirmed patients and in 29 age-matched healthy controls. The walk distance covered within 6 min (6MWD) was significantly less in SBMA than it was in controls (323.3 +/- 143.9 m and 637.6 +/- 94.2 m, respectively; P < 0.001). In test-retest analysis, the intraclass correlation coefficient for the 6MWD was high in SBMA patients (r = 0.982). In a 1-year follow-up the 6MWD significantly decreased at a rate of 11.3% per year. Our observations suggest that the 6MWT is a biomarker that can be used to monitor progression of motor impairment in SBMA.

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“…Bulbar dysfunction may more rapidly progress than limb weakness [9] . The speed of progression is generally regarded slower than in spinal muscular atrophy [10] . In a study of 21 patients with BSMA only 3 were wheel-chair-bound by the age of 72 y on the average [11] .…”

Section: Discussionmentioning

confidence: 99%

Only some patients with bulbar and spinal muscular atrophy may develop cardiac disease

Finsterer

Stöllberger

2018

Molecular Genetics and Metabolism Reports

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ObjectivesAccording to recent publications, some patients with spinal and bulbar muscular atrophy (BSMA) develop cardiac disease, manifesting as ST-segment abnormalities, Brugada-syndrome, dilative cardiomyopathy, or sudden cardiac death. Here we present neurological and cardiac data of a BSMA patient who was followed up for 10 y.Case reportIn a male patient aged 47 y, BSMA was diagnosed at age 37 y upon the typical clinical presentation (postural tremor since age 12 y, dysarthria since age 15 y, muscle cramps since age 29 y, general myalgias since age 32 y, general fasciculations since age 34 y, myoclonic jerks, easy fatigability, dyspnea upon exercise since age 36 y) and a CAG-repeat expansion of 47 ± 1 repeats in the androgen-receptor gene detected at age 37 y. During the next 10 y he additionally developed mild but slowly progressive diffuse weakness on the upper limbs and mild proximal weakness on the lower limbs. Cardiologic exam, ECG, and echocardiography were normal at ages 37 y, 41 y, 44 y, and 47 y.ConclusionsCardiac involvement may only develop in some BSMA patients within 10 y, whereas neurologic abnormalities slowly progress within 10 y of observation. Cardiac disease may develop at a later stage with progression of age and disease.

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X-Linked Spinal and Bulbar Muscular Atrophy of Late Onset (Kennedy-Stefanis Disease?)

Cited by 13 publications

References 5 publications

X-linked bulbospinal muscular atrophy (Kennedy's syndrome): a report of three cases

X-linked bulbospinal muscular atrophy (Kennedy's syndrome): a report of three cases

Walking capacity evaluated by the 6‐minute walk test in spinal and bulbar muscular atrophy

Only some patients with bulbar and spinal muscular atrophy may develop cardiac disease

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