Early subclinical cochlear dysfunction in myotonic dystrophy type 1

Pisani, Valerio; Tirabasso, Angelo; Mazzone, Salvatore; Terracciano, Chiara; Botta, Annalisa; Novelli, Giuseppe; Bernardi, Giorgio; Massa, Roberto; Girolamo, Stefano Di

doi:10.1111/j.1468-1331.2011.03470.x

Cited by 13 publications

(8 citation statements)

References 17 publications

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“…Only two of these patients had diabetes mellitus and as in DM1 studies, neuropathies in DM2 are not correlated with fasting blood glucose or HbA1C or with age at examination. Sensorineural hearing loss was present in some patients, which was in concordance with studies of DM in which hearing defects have been reported as a sign of the disease …”

Section: Discussionsupporting

confidence: 89%

Peripheral neuropathy in patients with myotonic dystrophy type 2

Leonardis

2016

Acta Neurol Scand

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Section: Discussionsupporting

confidence: 89%

Peripheral neuropathy in patients with myotonic dystrophy type 2

Leonardis

2016

Acta Neurol Scand

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“…It is mostly a cochlear sensorineural hearing impairment which may be interpreted as an early presbycusis ( 81 ), well fitting in the interpretation of DMs as premature aging diseases. Similar features of cochlear impairment have also been described in some studies on DM1 patients ( 82 ).…”

Section: Extramuscular Symptomssupporting

confidence: 83%

Core Clinical Phenotypes in Myotonic Dystrophies

2018

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Myotonic dystrophy type 1 (DM1) and type 2 (DM2) represent the most frequent multisystemic muscular dystrophies in adulthood. They are progressive, autosomal dominant diseases caused by an abnormal expansion of an unstable nucleotide repeat located in the non-coding region of their respective genes DMPK for DM1 and CNBP in DM2. Clinically, these multisystemic disorders are characterized by a high variability of muscular and extramuscular symptoms, often causing a delay in diagnosis. For both subtypes, many symptoms overlap, but some differences allow their clinical distinction. This article highlights the clinical core features of myotonic dystrophies, thus facilitating their early recognition and diagnosis. Particular attention will be given to signs and symptoms of muscular involvement, to issues related to respiratory impairment, and to the multiorgan involvement. This article is part of a Special Issue entitled “Beyond Borders: Myotonic Dystrophies—A European Perception.”

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“…Hearing loss in type 1 Stickler syndrome resembles early-onset presbyacusis, and is strikingly similar to hearing loss in myotonic dystrophy type 1 caused by a mutation in the DMPK gene, which is supposed to interact with the motility of outer hair cells [13]. In Usher type II patients, characterized by a predominantly high-frequency SNHL that is more severe than in Stickler syndrome type 1, a sensory type of cochlear hearing impairment has been [14].…”

Section: Discussionmentioning

confidence: 97%

Auditory phenotype in Stickler syndrome: results of audiometric analysis in 20 patients

Acke

Swinnen

Malfait

et al. 2016

Eur Arch Otorhinolaryngol

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Hearing loss in Stickler syndrome has received little attention due to the often more disabling ocular, orofacial and skeletal manifestations. Estimates suggest a global prevalence of sensorineural hearing loss (SNHL) ranging from 50 % to about 100 % though, depending on the underlying Stickler genotype. By performing extensive audiometric analysis in Stickler patients, we aimed to further elucidate the auditory phenotype. Twenty molecularly confirmed Stickler patients (age 10-62 year), of whom sixteen with type 1 Stickler syndrome (COL2A1 mutation) and four with type 2 Stickler syndrome (COL11A1 mutation) underwent an otological questionnaire, clinical examination, pure tone and speech audiometry, tympanometry and otoacoustic emission testing. Cross-sectional and longitudinal regression analysis of the audiograms was performed to assess progression. In type 1 Stickler syndrome, 75 % demonstrated hearing loss, predominantly in the high frequencies. No significant progression beyond presbyacusis was observed. All type 2 Stickler patients exhibited mild-to-moderate low- and mid-frequency SNHL and moderate-to-severe high-frequency SNHL. In both types, hearing loss was observed in childhood. Otoacoustic emissions were only detectable in 7/40 ears and had very low amplitudes, even in frequency bands with normal hearing on pure tone audiometry. Type 1 Stickler syndrome is characterized by a mild high-frequency SNHL, emerging in childhood and non-progressive. Absent otoacoustic emissions are a frequent finding. Patients with type 2 Stickler syndrome exhibit early-onset moderate SNHL affecting all frequencies with a sloping audiogram. Taking into account the visual impairment in many patients, we recommend regular auditory follow-up in patients with Stickler syndrome, especially in childhood.

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Early subclinical cochlear dysfunction in myotonic dystrophy type 1

Cited by 13 publications

References 17 publications

Peripheral neuropathy in patients with myotonic dystrophy type 2

Peripheral neuropathy in patients with myotonic dystrophy type 2

Core Clinical Phenotypes in Myotonic Dystrophies

Auditory phenotype in Stickler syndrome: results of audiometric analysis in 20 patients

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