Distinguishing clinical and electrodiagnostic features of X-linked bulbospinal neuronopathy

Meriggioli, Matthew N.; Rowin, Julie; Sanders, Donald B.

doi:10.1002/(sici)1097-4598(199912)22:12<1693::aid-mus11>3.0.co;2-s

Cited by 29 publications

(16 citation statements)

References 24 publications

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“…Fasciculation potentials were found only in right Deltoideus and bilateral Gastrocnemius/Tibialis Anterior muscles. We did not find complex repetitive discharges as emphasized by others 2 . We concluded that the needle examination main finding was chronic reinnervation not precisely related to clinical picture reflecting very slow motor neuron degeneration with effective reinnervation.…”

Section: Discussionmentioning

confidence: 99%

“…Kennedy's disease is considered as a slow progressive form of MND symmetrically involving bulbar and spinal motor neurons associated with testicular atrophy and gynecomastia 2,4 . The age of onset is earlier than for most MND being between 45-50 years 2 , 4 .…”

Section: Chronic Reinnervation Was Found In Cranial Nerve Muscles (Ormentioning

confidence: 99%

“…Kennedy's disease is usually classified among the progressive spinal a m yo t r o p h i e s 3 . and is characterized by slowly progressive proximal muscle weakness, prominent muscle cramps and fasciculation, bulbar weakness and in some patients, signs of androgen insensitivity 2 . T h i s disorder is frequently misdiagnosed as a motor n e uron disease (MND) mainly in its main form, amyotrophic lateral sclerosis (ALS).…”

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confidence: 95%

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X-linked spinal and bulbar muscular atrophy (Kennedy's disease) with long-term electrophysiological evaluation: case report

Kouyoumdjian

Morita

Araújo

2005

Arq. Neuro-Psiquiatr.

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-X-linked spinal and bulbar muscular atrophy or Kennedy's disease is an adult-onset motor neuronopathy caused by a CAG repeat expansion within the first exon of an androgen receptor gene. We report the case of a 66-year-old man, previously diagnosed with motor neuron disease (MND), who presented acute and reversible left vocal fold (dysphonia) and pharyngeal paresis, followed by a slowly progressive weakness and also bouts of weakness, wasting and fasciculation on tongue, masseter, face, pharyngeal, and some proximal more than distal upper limb muscles, associated to bilateral hand tremor and mild gynecomastia. There were 5 electroneuromyography exams between 1989 and 2003 that revealed chronic reinnervation, some fasciculations (less than clinically observed) and rare fibrillation potentials, and slowly progressive sensory nerve action potentials (SNAP) abnormality, leading to absent/low amplitude potentials. PCR techniques of DNA analysis showed an abnormal number of CAG repeats, found to be 44 (normal 11-34). Our case revealed an acute and asymmetric clinical presentation related to bulbar motoneurons; low amplitude/absent SNAP with mild asymmetry; a sub-clinical or subtle involvement of proximal/distal muscles of both upper and lower limbs; and a probable evolution with bouts of acute dennervation, followed by an efficient reinnervation.KEY WORDS: X-linked spinal and bulbar muscular atrophy, Kennedy's disease, bulbospinal neuronopathy, motor neuron disease, amyotrophic lateral sclerosis, sensory neuropathy.Atrofia muscular bulbo-espinal ligada ao cromossomo X (doença de Kennedy) com seguimento eletrofisiológico de longo prazo: relato de caso RESUMO -Atrofia muscular bulbo-espinal ligada ao cromossomo X (doença de Kennedy) é uma neuronopatia motora em adultos causada por expansões na repetição CAG no gene do receptor andrógeno. Neste relato, descreve-se o caso de homem de 66 anos, com diagnóstico prévio de doença do neurônio motor (DNM) que apresentou quadro agudo e reversível de paresia de prega vocal (disfonia) e de músculos farín-geos à esquerda; posteriormente seguiram-se surtos de fraqueza lentamente progressiva, atrofia e fasciculações em língua, masseter, face, faringe e membros superiores predominantemente proximal, associada a tremor bilateral de mãos e ginecomastia leve. Foram realizadas 5 eletroneuromiografias entre 1989 e 2003 que mostraram reinervação crônica, algumas fasciculações, raras fibrilações e redução progressiva de amplitude ou ausência dos potenciais de ação dos nervos sensitivos (PANS). Técnica de PCR para análise de DNA revelou expansão anormal de repetições CAG, sendo encontrado 44 (normal, 11-34). Este caso teve apresentação clínica aguda e assimétrica relacionada aos motoneurônios bulbares; PANS ausentes ou de baixa amplitude com leve assimetria; envolvimento subclínico ou leve de músculos proximais e distais tanto de membros superiores como inferiores; e, provável evolução com surtos agudos de desnervação aguda, seguida por reinervação eficiente.PA L AV R A S -C H AVE: a...

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Section: Discussionmentioning

confidence: 99%

Section: Chronic Reinnervation Was Found In Cranial Nerve Muscles (Ormentioning

confidence: 99%

mentioning

confidence: 95%

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X-linked spinal and bulbar muscular atrophy (Kennedy's disease) with long-term electrophysiological evaluation: case report

Kouyoumdjian

Morita

Araújo

2005

Arq. Neuro-Psiquiatr.

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“…It is an X-linked disease, whose genetic defect is an abnormal repeated expansion of the CAG trinucleotide at the first exon of the androgen receptor gene 1,2 .Individuals affected with KD have between 40-53 CAG repeats. Normal range is between 17-26 repeats 4 .…”

Section: Discussionmentioning

confidence: 99%

“…Although several hereditary neurodegenerative diseases, among which Kennedy's disease (KD) also known as X-linked spinal and bulbar muscular atrophy and Kugelberg-Welander's disease (spinal muscle atrophy type III), are classified as lower motor neuron disease, they usually present with strikingly different clinical features 1 . As well as that, they have distinct genetic mutations, allowing a correct diagnosis based on specific and precise laboratory testing 2,3 .…”

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confidence: 99%

Kennedy's disease phenotype with positive genetic study for Kugelberg-Welander's disease: case report

Trentin

Scola

Teive

et al. 2005

Arq. Neuro-Psiquiatr.

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We described a patient with clinical findings from Kennedy's disease and positive genetic study for Kugelberg-Welander's disease. A 24 years old man with negative family history presented with progressive spinal and bulbar muscular atrophy and gynecomastia at the age of 14. He was clinically diagnosed as having Kennedy's disease. However, a genetic study performed later was found to be negative for this disease and was positive for Kugelberg-Welander's disease, with deletion of the exons 7 and 8 in the "survival of motor neuron" gene.

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X-linked Bulbospinal Neuronopathy

Sperfeld

Karitzky²,

Brummer³

et al. 2002

Arch Neurol

146

131

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Distinguishing clinical and electrodiagnostic features of X-linked bulbospinal neuronopathy

Cited by 29 publications

References 24 publications

X-linked spinal and bulbar muscular atrophy (Kennedy's disease) with long-term electrophysiological evaluation: case report

X-linked spinal and bulbar muscular atrophy (Kennedy's disease) with long-term electrophysiological evaluation: case report

Kennedy's disease phenotype with positive genetic study for Kugelberg-Welander's disease: case report

X-linked Bulbospinal Neuronopathy

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