Grey and white matter loss along cerebral midline structures in myotonic dystrophy type 2.

Myotonic dystrophy type 2 (DM2) is an autosomal dominantly inherited multisystemic disorder and a common cause of muscular dystrophy in adults. Although neuromuscular symptoms predominate, there is clinical and imaging evidence of cerebral involvement. We used voxel-based morphometry (VBM) based on T1-weighted magnetic resonance images to investigate brain morphology in 13 DM2 patients in comparison to 13 sex- and age-matched controls. Further, we employed novel computational surface-based methods that specifically assess callosal thickness. We found grey and white matter loss along cerebral midline structures in our patient group. Grey matter reductions were present in brainstem and adjacent hypothalamic and thalamic regions, while white matter was mainly reduced in corpus callosum. The reduced callosal size was highly significant and independently confirmed by different methods. Our data provide first evidence for grey and white matter loss along brain midline structures in DM2 patients. The reduced size of the corpus callosum further extends the spectrum of white matter changes in DM2 and may represent the morphological substrate of neuropsychological abnormalities previously described in this disorder.

Trastornos de sueño en la distrofia miotónica tipo 1 / Sleep disorders in myotonic dystrophy type I

Evaluamos los trastornos de sueño en ocho pacientes con distrofia miotónica tipo 1 confirmada genéticamente, con edades comprendidas entre 38 y 58 años. Los pacientes fueron estudiados mediante polisomnografía y test de latencias múltiples de sueño. Encontramos excesiva somnolencia diurna en el 75% de los pacientes, no justificable por los eventos respiratorios durante el sueño. El modafinil mejoró este síntoma en todos ellos (AU)

We investigated the sleep disorders in eight patients with genetically confirmed myotonic dystrophy type 1, aged from 38 to 58 years. Patients were studied with nocturnal polysomnogram and multiple sleep latency tests. We found excessive daytime sleepiness in 75% of them, not accountable for respiratory events during sleep. Modafinil improved this symptom in all of them (AU)

Myotonic dystrophy type 1 presenting with ventilatory failure.

OBJECTIVE: To report a series of patients with adult onset myotonic dystrophy type 1 (DM1) in whom the presenting symptom was ventilatory failure. BACKGROUND: Ventilatory failure is a common complication of DM1 and may be a presenting symptom in the setting of anesthesia or surgery, but it is not known to be a heralding manifestation. METHOD: Case series. RESULTS AND DISCUSSION: Three adults developed dyspnea leading to ventilatory failure, with no cardiac or pulmonary causes identified. Case 1 required intubation for ventilator support and was sedated with propofol. There was no clinical myotonia, and electromyography (EMG) demonstrated brief runs of myotonic discharges. Examination 3 weeks later off propofol revealed percussion myotonia, and EMG evidence of long runs of myotonic discharges. Genetic testing confirmed the diagnosis of DM1. Case 2 had cataracts and ptosis but no known diagnosis of DM and no previous neurological impairments. Case 3 was previously neurologically asymptomatic but her son had congenital DM1. The diagnosis was confirmed by EMG in cases 2 and 3, and both patients were managed with bilevel ventilation (BIPAP). CONCLUSION: Myotonic dystrophy type 1 should be considered in the differential diagnosis of acute ventilatory failure in adults.