The first Italian patient with oculopharyngodistal myopathy: Case report and considerations on differential diagnosis

Mignarri, Andrea; Carluccio, Maria Alessandra; Malandrini, Alessandro; Sicurelli, Francesco; Galli, Lucia; Mazzei, Maria Antonietta; Federico, Antonio; Orrico, Alfredo; Dotti, Maria Teresa

doi:10.1016/j.nmd.2012.03.010

Cited by 14 publications

(26 citation statements)

References 13 publications

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“…The popliteus was completely spared from disease, whereas the rectus femoris, sartorius, gracilis, and short head of the biceps femoris were only mildly involved, regardless of the disease duration. This result differs from the finding that the rectus femoris and adductor magnus muscles became mildly involved in the eleventh year of OPMD disease progression in an Italian patient [ 5 ]. Moreover, we found that the soleus, gastrocnemius and extensor digitorum were significantly involved from the early stages, which was different from the observation of particularly extensive fatty replacement of the gastrocnemius medialis observed by Mignarri et al [ 5 ].…”

Section: Discussioncontrasting

confidence: 99%

“…Our patients exhibited a non-uniform pattern of inheritance, although autosomal recessive or sporadic inheritance appeared to predominate. The median age of onset (25.3 years) was similar to that reported in OPDM patients from Turkey and the Netherlands [ 1 , 7 ], although previous Turkish patients initially exhibited bilateral ptosis as the dominant symptom, which differed from the main complaint of lower leg weakness reported by our patients [ 5 ]. Our study also demonstrated a tendency for patients that initially presented with bilateral ophthalmoplegia to exhibit a relatively slower disease progression than those with initial limb weakness, as observed in the Turkish patients.…”

Section: Discussionsupporting

confidence: 83%

“…Cases of OPDM have previously been reported in Turkey, Japan, Italy, the Netherlands, and the United States [ 1 , 2 , 5 – 7 ]. Additionally, several Chinese OPDM patients have been reported by us and others [ 3 , 6 , 9 ].…”

Section: Discussionmentioning

confidence: 99%

“…There is considerable clinical and myopathological overlap between OPDM and a wide spectrum of other muscular disorders, such as oculopharyngeal muscular dystrophy (OPMD), myotonic dystrophy 1 (DM1), distal myopathy with rimmed vacuoles, and myofibrillar myopathy [ 5 , 6 , 10 ]. OPMD is an autosomal dominant late-onset disorder characterized by progressive ptosis, dysphagia, and proximal muscle weakness.…”

Section: Introductionmentioning

confidence: 99%

“…Recent studies have suggested that there might be differences in clinical manifestations among OPDM patients from different populations [ 1 , 2 , 5 – 8 ]. Therefore, additional OPDM cases and differential diagnostic markers would enable us to gain additional insight into this disease.…”

Section: Introductionmentioning

confidence: 99%

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Clinical and Muscle Imaging Findings in 14 Mainland Chinese Patients with Oculopharyngodistal Myopathy

et al. 2015

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Oculopharyngodistal myopathy (OPDM) is an extremely rare, adult-onset hereditary muscular disease characterized by progressive external ocular, pharyngeal, and distal muscle weakness and myopathological rimmed vacuole changes. The causative gene is currently unknown; therefore, diagnosis of OPDM is based on clinical and histopathological features and genetic exclusion of similar conditions. Moreover, variable manifestations of this disorder are reported in terms of muscle involvement and severity. We present the clinical profile and magnetic resonance imaging (MRI) changes of lower limb muscles in 14 mainland Chinese patients with OPDM, emphasizing the role of muscle MRI in disease identification and differential diagnosis. The patients came from 10 unrelated families and presented with progressive external ocular, laryngopharyngeal, facial, distal limb muscle weakness that had been present since early adulthood. Serum creatine kinase was mildly to moderately elevated. Electromyography revealed myogenic changes with inconsistent myotonic discharge. The respiratory function test revealed subclinical respiratory muscle involvement. Myopathological findings showed rimmed vacuoles with varying degrees of muscular dystrophic changes. All known genes responsible for distal and myofibrillar myopathies, vacuolar myopathies, and muscular dystrophies were excluded by PCR or targeted next-generation sequencing. Muscle MRI revealed that the distal lower legs had more severe fatty replacement than the thigh muscles. Serious involvement of the soleus and long head of the biceps femoris was observed in all patients, whereas the popliteus, gracilis and short head of biceps femoris were almost completely spared, even in advanced stages. Not only does our study widen the spectrum of OPDM in China, but it also demonstrates that OPDM has a specific pattern of muscle involvement that may provide valuable information for its differential diagnosis and show further evidence supporting the conclusion that OPDM is a unique disease phenotype.

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Section: Discussioncontrasting

confidence: 99%

Section: Discussionsupporting

confidence: 83%

Section: Discussionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

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Clinical and Muscle Imaging Findings in 14 Mainland Chinese Patients with Oculopharyngodistal Myopathy

et al. 2015

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Clinicopathologic Features of Oculopharyngodistal Myopathy WithLRP12CGG Repeat Expansions Compared With Other Oculopharyngodistal Myopathy Subtypes

Kumutpongpanich¹,

Ogasawara²,

Ozaki³

et al. 2021

JAMA Neurol

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and the OPDM_LRP12 Study Group IMPORTANCE Repeat expansion of CGG in LRP12 has been identified as the causative variation of oculopharyngodistal myopathy (OPDM). However, to our knowledge, the clinicopathologic features of OPDM with CGG repeat expansion in LRP12 (hereafter referred to as OPDM_LRP12) remain unknown.OBJECTIVE To identify and characterize the clinicopathologic features of patients with OPDM_LRP12. DESIGN, SETTING, AND PARTICIPANTSThis case series included 208 patients with a clinical or clinicopathologic diagnosis of oculopharyngeal muscular dystrophy (OPDM) from January 1, 1978, to December 31, 2020. Patients with GCN repeat expansions in PABPN1 were excluded from the study. Repeat expansions of CGG in LRP12 were screened by repeat primed polymerase chain reaction and/or Southern blot.MAIN OUTCOMES AND MEASURES Clinical information, muscle imaging data obtained by either computed tomography or magnetic resonance imaging, and muscle pathologic characteristics.RESULTS Sixty-five Japanese patients with OPDM (40 men [62%]; mean [SD] age at onset, 41.0 [10.1] years) from 59 families with CGG repeat expansions in LRP12 were identified. This represents the most common OPDM subtype among all patients in Japan with genetically diagnosed OPDM. The expansions ranged from 85 to 289 repeats. A negative correlation was observed between the repeat size and the age at onset (r 2 = 0.188, P = .001). The most common initial symptoms were ptosis and muscle weakness, present in 24 patients (37%). Limb muscle weakness was predominantly distal in 53 of 64 patients (83%), but 2 of 64 patients (3%) had predominantly proximal muscle weakness. Ptosis was observed in 62 of 64 patients (97%), and dysphagia or dysarthria was observed in 63 of 64 patients (98%). A total of 21 of 64 patients (33%) had asymmetric muscle weakness. Aspiration pneumonia was seen in 11 of 64 patients (17%), and 5 of 64 patients (8%) required mechanical ventilation. Seven of 64 patients (11%) developed cardiac abnormalities, and 5 of 64 patients (8%) developed neurologic abnormalities. Asymmetric muscle involvement was detected on computed tomography scans in 6 of 27 patients (22%) and on magnetic resonance imaging scans in 4 of 15 patients (27%), with the soleus and the medial head of the gastrocnemius being the worst affected. All 42 muscle biopsy samples showed rimmed vacuoles. Intranuclear tubulofilamentous inclusions were observed in only 1 of 5 patients. CONCLUSIONS AND RELEVANCEThis study suggests that OPDM_LRP12 is the most frequent OPDM subtype in Japan and is characterized by oculopharyngeal weakness, distal myopathy that especially affects the soleus and gastrocnemius muscles, and rimmed vacuoles in muscle biopsy.

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Expanded clinical spectrum of oculopharyngodistal myopathy type 1

et al. 2022

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Introduction/Aims: Heterozygous CGG repeat expansions in low-density lipoprotein receptor-related protein 12 (LRP12) have recently been identified as a cause of oculopharyngodistal myopathy (OPDM), and the disease is designated as OPDM type 1 (OPDM1). In contrast to broadening of our knowledge on the genetic background of OPDM, what we know of the clinical phenotype of genetically confirmed OPDM1 remains limited.Methods: This investigation was a single-center case series study of OPDM consisting of ten patients from seven families. Repeat-primed polymerase chain reaction and Southern blot analyses were performed to confirm the CGG repeat expansions in LRP12. Clinical findings were retrospectively reviewed.Results: Seven patients from five families were identified as having CGG repeat expansions in LRP12. We found a high prevalence of axial muscle involvement, such as neck muscle weakness (6/7) and fatty infiltration in the rectus abdominis muscle, as revealed by computed tomography (5/5). We identified patients with very subtle oculopharyngeal symptoms, mimicking isolated distal myopathy. Muscle specimens

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The first Italian patient with oculopharyngodistal myopathy: Case report and considerations on differential diagnosis

Cited by 14 publications

References 13 publications

Clinical and Muscle Imaging Findings in 14 Mainland Chinese Patients with Oculopharyngodistal Myopathy

Clinical and Muscle Imaging Findings in 14 Mainland Chinese Patients with Oculopharyngodistal Myopathy

Clinicopathologic Features of Oculopharyngodistal Myopathy WithLRP12CGG Repeat Expansions Compared With Other Oculopharyngodistal Myopathy Subtypes

Expanded clinical spectrum of oculopharyngodistal myopathy type 1

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