Hereditary distal muscular atrophy with vocal cord paralysis and sensorineural hearing loss: a dominant form of spinal muscular atrophy?

Boltshauser, Eugen; Lang, W.J.; Spillmann, Thomas; Hof, E.

doi:10.1136/jmg.26.2.105

Cited by 38 publications

(22 citation statements)

References 11 publications

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“…Muscle biopsy showed a pattern of chronic denervation [22,26]. As a whole these clinical, electrophysiological and biopsy findings give support to the notion that this disease represents a type of predominantly motor disorder that can be placed in the broad group of dominant forms of SMA [4,14]. However, in the only autopsy study so far reported brain and spinal cord sections revealed normal numbers of motor neurons in the motor cortex and anterior horns [10].…”

Section: Discussionsupporting

confidence: 53%

Reduced penetrance in hereditary motor neuropathy caused by TRPV4 Arg269Cys mutation

et al. 2011

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Incomplete penetrance has rarely been reported in Charcot-Marie-Tooth disease. Our aim is to describe reduced penetrance in a hereditary motor neuropathy pedigree due to mutation in the transient receptor potential vallinoid 4 (TRPV4) gene. The pedigree comprised two affected members, the proband aged 44 years and her affected daughter aged 7 years, and seven additional related subjects, three of whom were subclinical gene mutation carriers aged 9, 40 and 70 years. Clinico-electrophysiological studies, MRI of lower-limb musculature and genetic testing of the TRPV4 were performed. The proband presented with a moderate facio-scapulo-peroneal syndrome, whereas her symptomatic daughter suffered from severe congenital spinal muscular atrophy with arthrogryposis, laryngomalacia, and vocal cord paresis. Electrophysiological evaluation revealed a pure motor axonal neuropathy. In the proband, MRI showed extensive and widespread fatty atrophy of lower-leg musculature, whereas in thigh musculature there was just mild distal fatty infiltration of vastus lateralis. Genetic testing revealed a heterozygous Arg269Cys mutation in the TPRV4 gene. In all three mutation carriers results from clinical and electrophysiological examination, and MRI of foot and lower-leg musculature were normal. We conclude that non-penetrance may be an integral feature of neuropathic syndromes associated with TRPV4 gene mutation.

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Section: Discussionsupporting

confidence: 53%

Reduced penetrance in hereditary motor neuropathy caused by TRPV4 Arg269Cys mutation

et al. 2011

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“…3 In 1989, Boltshauser et al also described distal spinal muscular atrophy with vocal fold paralysis and sensorineural deafness involving three generations in a family. 4 Similar findings were described by Pridmore et al 5 Roulet and Our case of SMA presented with respiratory distress. Laryngoscopy revealed a bilateral vocal fold palsy which was treated by Kashima's cordotomy.…”

Section: Ijoplsupporting

confidence: 77%

An Unusual Presentation of Bilateral Vocal Fold Paralysis due to Spinal Muscular Atrophy

Nerurkar¹,

Kulkarni²,

Nk³

et al. 2014

International Journal of Phonosurgery &Amp; Laryngology

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“…Fazio-Londe disease (Bulbar Hereditary Neuropathy type II) is the closest related syndrome but considered distinct from BVVL syndrome because of the absence of deafness 18 . Bolthauser et al described a similar disease, but with different aspects from the BVVL: autosomal dominant inheritance and predominant presentation of vocal alteration with dysphonia and intermittent changes on voice pitch 19 . Madras variant of motor neuron dis- ease presents with an early onset of muscle and bulbar involvement, with deafness occurring in two thirds of the patients 9,20 .…”

Section: Discussionmentioning

confidence: 99%

A Brazilian family with Brown-Vialetto-van Laere syndrome with autosomal recessive inheritance

Malheiros

Camargos

Oliveira

et al. 2007

Arq. Neuro-Psiquiatr.

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-We report the first Brazilian family with Brown-Vialetto-van Laere syndrome. The presence of consanguineous marriages and illness affecting three sisters and one niece support an autosomal recessive transmission. The age at onset of the illness ranged from 12 to 20 years old. The time interval between hearing loss and involvement of other cranial nerves varied from 3 to 12 years. MRI demonstrated bulbar atrophy and also high intensity signal at T2 weighted and fluid attenuated inversion recovery (FLAIR) sequences.KEY WORDS: Brown-Vialetto-van Laere syndrome, autosomal recessive inheritance, hearing impairment.Descrição de uma família brasileira com síndrome de Brown-Vialetto-van Laere com herança autossômica recessiva RESUMO -Descrevemos a primeira família brasileira com síndrome de Brown-Vialetto-van Laere. Os pacientes são três irmãs e uma sobrinha provenientes de casamentos consangüíneos, o que fortalece a hipótese de transmissão autossômica recessiva. A idade de aparecimento dos sintomas variou entre 12 e 20 anos. A latência entre a perda auditiva e o envolvimento de outros nervos cranianos variou de 3 a 12 anos. O estudo de imagem por ressonância magnética demonstrou atrofia bulbar além de alteração de sinal nas seqüên-cias ponderadas em T2 e FLAIR (fluid attenuated inversion recovery).PALAVRAS-CHAVE: síndrome de Brown-Vialetto-van Laere, herança autossômica recessiva, surdez.

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Hereditary distal muscular atrophy with vocal cord paralysis and sensorineural hearing loss: a dominant form of spinal muscular atrophy?

Cited by 38 publications

References 11 publications

Reduced penetrance in hereditary motor neuropathy caused by TRPV4 Arg269Cys mutation

Reduced penetrance in hereditary motor neuropathy caused by TRPV4 Arg269Cys mutation

An Unusual Presentation of Bilateral Vocal Fold Paralysis due to Spinal Muscular Atrophy

A Brazilian family with Brown-Vialetto-van Laere syndrome with autosomal recessive inheritance

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