Facioscapulohumeral Dystrophy Associated With Multiple Sclerosis

Mishra, Saroj Kanta; Currier, Robert D.; Smith, Edward E.; Malhotra, C; Bebin, José; Hudson, John M.

doi:10.1001/archneur.1984.04050170120032

Cited by 10 publications

(6 citation statements)

References 5 publications

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“…171,172 Sporadic association with multiple sclerosis has been reported. 173 Fierro and colleagues described a relatively high incidence of WM hyperintensities in the disease. 170 In particular, WM hyperintense lesions were mainly located bilaterally in parieto-temporal lobes in 44% of FSHD without a significant hemispheric prevalence.…”

Section: Facioscapulohumeral Dystrophymentioning

confidence: 99%

Advances in imaging of brain abnormalities in neuromuscular disease

Angelini

Pinzan

2019

Ther Adv Neurol Disord

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Brain atrophy, white matter abnormalities, and ventricular enlargement have been described in different neuromuscular diseases (NMDs). We aimed to provide a comprehensive overview of the substantial advancement of brain imaging in neuromuscular diseases by consulting the main libraries ( Pubmed, Scopus and Google Scholar) including the more common forms of muscular dystrophies such as dystrophinopathies, dystroglycanopathies, myotonic dystrophies, facioscapulohumeral dystrophy, limb-girdle muscular dystrophy, congenital myotonia, and congenital myopathies. A consistent, widespread cortical and subcortical involvement of grey and white matter was found. Abnormalities in the functional connectivity in brain networks and metabolic alterations were observed with positron emission tomography (PET) and single photon emission computed tomography (SPECT). Pathological brain changes with cognitive dysfunction seemed to be frequently associated in NMDs. In particular, in congenital muscular dystrophies (CMDs), skeletal muscular weakness, severe hypotonia, WM abnormalities, ventricular dilatation and abnormalities in cerebral gyration were observed. In dystroglycanopathy 2I subtype (LGMD2I), adult patients showed subcortical atrophy and a WM periventricular involvement, moderate ventriculomegaly, and enlargement of subarachnoid spaces. Correlations with clinical features have been observed with brain imaging characteristics and alterations were prominent in congenital or childhood onset cases. In myotonic dystrophy type 2 (DM2) symptoms seem to be less severe than in type 1 (DM1). In Duchenne and Becker muscular dystrophies (DMD, BMD) cortical atrophy is associated with minimal ventricular dilatation and WM abnormalities. Late-onset glycogenosis type II (GSD II) or Pompe infantile forms are characterized by delayed myelination. Only in a few cases of oculopharyngeal muscular dystrophy (OPMD) central nervous system involvement has been described and associated with executive functions impairment.

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Section: Facioscapulohumeral Dystrophymentioning

confidence: 99%

Advances in imaging of brain abnormalities in neuromuscular disease

Angelini

Pinzan

2019

Ther Adv Neurol Disord

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“…Similarly, isolated studies have associated several CNS disorders with FSHD, including retinal vascular changes (Padberg et al 1995), central auditory function with sensorineural hearing loss (Brouwer et al 1991; Rogers et al 2002), schizophrenia (Sharma & Namrata 2004), and epilepsy and mental retardation (Funakoshi et al 1998; Miura et al 1998). A sporadic association with multiple sclerosis has also been reported (Mishra et al 1984).…”

mentioning

confidence: 99%

Cognitive function in facioscapulohumeral dystrophy correlates with the molecular defect

Sistiaga

Camaño

Otaegui

et al. 2009

Genes Brain and Behavior

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Previous studies based on case descriptions and neuroradiological findings have suggested central nervous system (CNS) involvement in facioscapulohumeral dystrophy. The aim of this work is to explore the relationship between cognitive/personality pattern and the underlying molecular defect for this muscular dystrophy. We performed a wide-ranging neuropsychological assessment of 34 molecularly confirmed facioscapulohumeral dystrophy patients and 49 control subjects, all of whom also received the Millon-II Multiaxial Clinical Inventory (MCMI-II). Patients and controls show mild learning-level differences in the neuropsychological profile, and only the hysteriform scale is statistically higher in patients than controls. The patients' intelligence quotient (IQ) is related to the size of the deleted fragment but not to the degree of muscular impairment. The results of this study indicate a cut-off point and two distinct cognitive profiles in facioscapulohumeral dystrophy, depending on the patients' molecular defect: patients with a fragment size >24 kb show a relatively normal cognitive pattern, whereas those with a fragment size 24 kb show a significantly reduced IQ and difficulties with verbal function and visuo-constructive tasks. This work provides more evidence for the involvement of the CNS in facioscapulohumeral dystrophy and suggests that the fragment size should be taken into account in the clinical management of facioscapulohumeral dystrophy as it has a predictive value on the cognitive phenotype.

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“…However, pathogenic mtDNA mutations are not more common in the multiple sclerosis population (Leuzzi et al ., 1997), and in two reports on combined mitochondrial disease and multiple sclerosis, no common aetiology for the two diseases was proposed (Bet et al ., 1994; Taylor et al ., 1998). Likewise, no common aetiology was suggested for a case of combined facio–scapulo–humeral muscular dystrophy and multiple sclerosis (Mishra et al ., 1984) and a case with combined myotonic dystrophy and multiple sclerosis (Terrence, 1976). Therefore, the occurrence of both centronuclear myopathy and multiple sclerosis in the present patient probably also represents the result of chance.…”

Section: Discussionmentioning

confidence: 99%

“…Multiple sclerosis and muscle disease is a very rare combination, which has only been described in a few case reports (Terrence, 1976; Mishra et al ., 1984; Bet et al ., 1994; Taylor et al ., 1998). We present here a patient with centronuclear myopathy who, at 35 years of age, presented with symptoms of multiple sclerosis.…”

Section: Introductionmentioning

confidence: 99%