No abstract available.
Muscular Dystrophy, Oculopharyngeal*

We recently encountered a Korean patient with oculopharyngeal muscular dystrophy (OPMD). His major clinical manifestations were late onset bilateral ptosis, dysarthria, and dysphagia. Direct sequencing analysis of the PABPN1 gene demonstrated a heterozygous insertion of 9 bp sequence [(GCG)(GCA)(GCA); c.28insGCGGCA GCA], resulting in an in-frame insertion of 3 alanines (p. A10insAAA). To our knowledge, this is the first report of a genetically confirmed case of OPMD in Korea.
Deglutition Disorders ; Dysarthria ; Humans ; Korea ; Muscular Dystrophies ; Muscular Dystrophy, Oculopharyngeal*

The authors encountered 2 siblings who showed progressive ophthalmoplegia and bulbar palsy. The patients were studied with various laboratory aids and thought to be as oculopharyngeal muscular dystrophy. The oculopharyngeal muscular dystrophy is a rare form of muscular dystrophy. The authors present the cases as familial oculopharyngeal muscular dystrophy.
Bulbar Palsy, Progressive ; Humans ; Muscular Dystrophies ; Muscular Dystrophy, Oculopharyngeal* ; Ophthalmoplegia ; Siblings

Oculopharyngeal muscular dystrophy, one of the variants of chronic progressive external ophthalmoplegia, is a disorder characterized by progressive bilateral ptosis, immobility of the eyes and dysphagia. We have experienced a 46-year-old woman complaining of bilateral ptosis, mild dysphagia and immobility of the eyes. Oculopharyngeal muscular dystrophy was confirmed by clinical, electromyographic and histopathologic examination. Therefore, we report a case of oculopharyngeal muscular dystrophy with review of literatures.
Deglutition Disorders ; Female ; Humans ; Middle Aged ; Muscular Dystrophy, Oculopharyngeal* ; Ophthalmoplegia, Chronic Progressive External

The authors presented a family whose 4 siblings had been suffered from oculopharyngeal muscular dystrophy of autoscmal recessive trend, with symptoms of progressive ptosis, external ophthalmoplegia, dysarthria, dysphagia and facial muscle atrophy, and we performed HLA study on these 9 family members which showed no interrelationship between oculopharyngeal muscular dystrophy and HLA Haplotypes.
Atrophy ; Deglutition Disorders ; Dysarthria ; Facial Muscles ; Haplotypes ; Histocompatibility Testing* ; Humans ; Muscular Dystrophy, Oculopharyngeal* ; Ophthalmoplegia ; Siblings

The oculopharyngeal muscular dystrophy is a distinct, clinically well-defined myopathy of later life inherited in an autosomal dominant fashion with complete penetrance. Blepharoptosis, dysphagia, lower leg weakness are the most prominent findings. It is a systemic myopathy which affects all voluntary muscles and appears to spare smooth and cardiac muscle. The authors experienced a case of the oculopharyngeal muscular dystrophy which showed characteristic signs and symptoms such as symmetric ptosis, dysphagia, and progressive external ophthalmoplegia, and the literature were reviewed.
Blepharoptosis ; Deglutition Disorders ; Leg ; Muscle, Skeletal ; Muscular Diseases ; Muscular Dystrophy, Oculopharyngeal* ; Myocardium ; Ophthalmoplegia, Chronic Progressive External ; Penetrance

PURPOSE: To determine the efficacy of frontalis sling operation with silicone rods in patients with compromised corneal protective mechanisms. METHODS: The authors retrospectively studied 6 consecutive patients (7 eyelids) with severe blepharoptosis with poor ocular motility who had undergone frontalis sling operations using silicone rods. RESULTS: Preoperative diagnoses included third nerve palsy in 4 patients, double elevator palsy in 1 patient, and suspicious oculopharyngeal muscular dystrophy in 1 patient. With a mean follow up of 27.7 months, a good final lid height was achieved in all 7 eyelids. Mild exposure keratopathy occurred postoperatively in 3 patients. During the follow-up period, no other significant complications, such as extrusion of the sling or infection, occurred. CONCLUSIONS: Silicone rods are effective and safe materials for use in frontalis suspension in treating blepharoptosis in patients with inadequate or absent Bell's phenomenon, resulting in poor eye protective mechanisms associated with an increased incidence of corneal exposure.
Blepharoptosis ; Elevators and Escalators ; Eye ; Eyelids ; Follow-Up Studies ; Humans ; Incidence ; Muscular Dystrophy, Oculopharyngeal ; Oculomotor Nerve Diseases ; Paralysis ; Retrospective Studies ; Silicones

Oculopharyngeal muscular dystrophy is a hereditary, autosomal dominant, slowly progressive disorder with middle age onset, major symptoms are ptosis and dysphagia mainly due to selectively involved levator palpebrae and the pharyngeal muscles. Progressive, usually symmetric blepharoptosis with or without dysphagia appears in middle age. Limb muscular weakness can be noted in some patients. This report describes 4 cases of oculopharyngeal muscular dystrophy in one family. All patients presented with slowly progressive bilateral ptosis and slight weakness of facial and bulbar muscles. The ptosis was severe in all cases at the time of surgery and levator resection was done via transcutaneous approach. The surgical result was satisfactory with all patients after 1 year follow-up.
Blepharoptosis ; Deglutition Disorders ; Extremities ; Follow-Up Studies ; Humans ; Middle Aged ; Muscle Weakness ; Muscles ; Muscular Dystrophy, Oculopharyngeal ; Pharyngeal Muscles

BACKGROUNDMyopathies with rimmed vacuoles are a heterogeneous group of muscle disorders with progressive muscle weakness and varied clinical manifestations but similar features in muscle biopsies. Here, we describe a novel autosomal dominant myopathy with rimmed vacuoles in a large family with 11 patients of three generations affected.

METHODSA clinical study including family history, obstetric, pediatric, and development history was recorded. Clinical examinations including physical examination, electromyography (EMG), serum creatine kinase (CK), bone X-rays, and brain magnetic resonance imaging (MRI) were performed in this family. Open muscle biopsies were performed on the proband and his mother. To find the causative gene, the whole-exome sequencing was carried out.

RESULTSDisease onset was from adolescence to adulthood, but the affected patients of the third generation presented an earlier onset and more severe clinical manifestations than the older generations. Clinical features were characterized as dysarthria, dysphagia, external ophthalmoplegia, limb weakness, hypophrenia, deafness, and impaired vision. However, not every patient manifested all symptoms. Serum CK was mildly elevated and EMG indicated a myopathic pattern. Brain MRI showed cerebellum and brain stem mildly atrophy. Rimmed vacuoles and inclusion bodies were observed in muscle biopsy. The whole-exome sequencing was performed, but the causative gene has not been found.

CONCLUSIONSWe reported a novel autosomal dominant myopathy with rimmed vacuoles characterized by dysarthria, dysphagia, external ophthalmoplegia, limb weakness, hypophrenia, deafness, and impaired vision, but the causative gene has not been found and needs further study.

Adolescent ; Adult ; Child ; Deafness ; diagnosis ; physiopathology ; Dysarthria ; diagnosis ; physiopathology ; Electromyography ; Female ; Humans ; Male ; Muscle Weakness ; diagnosis ; physiopathology ; Muscle, Skeletal ; pathology ; physiopathology ; Muscular Diseases ; diagnosis ; physiopathology ; Muscular Dystrophy, Oculopharyngeal ; diagnosis ; physiopathology ; Pedigree ; Vacuoles ; pathology ; Vision Disorders ; diagnosis ; physiopathology ; Young Adult