Myotonic dystrophy is the most common type of muscular dystrophy in adults and is characterized by progressive myopathy, myotonia, and multiorgan involvement. Two genetically distinct entities have been identified, myotonic dystrophy type 1 (DM1 or Steinert's Disease) and myotonic dystrophy type 2 (DM2). Myotonic dystrophies are strongly associated with sleep dysfunction. Sleep disturbances in ...

Twenty-five symptoms, signs, and abnormal investigations were looked for in 20 patients with clinically-definite myotonic dystrophy. Weakness of facial muscles, neck flexors, and arm external rotators was found in all patients (sensitivity = 100%). Arm external rotation has not been reported as a frequently involved muscle in previous clinical studies on myotonic dystrophy. Careful examination ...

We describe a 38-yr-old polio survivor with newly developed weakness from myotonic dystrophy. He suffered muscle atrophy and weakness in his legs as a result of poliomyelitis at the age of 3 yrs. After a stable interval of about 30 yrs, he felt new weakness and fatigue in his legs. Electromyography revealed generalized myotonic discharges, early recruitment, and findings of chronic denervation ...

Myotonic dystrophy is a multisystemic disorder characterized by repeat expansion mutations of the dystrophia myotonica protein kinase (DMPK) gene resulting in a defective muscular insulin receptor and insulin resistance. We describe a patient with myotonic dystrophy who developed biopsy-proven non-alcoholic steatohepatitis. We suggest that patients with myotonic dystrophy are at risk of develop...

INDIAN PEDIATRICS 746 VOLUME 41__JULY 17, 2004 dystrophy as a significant cause of idiopathic polyhydramnios. They suggested that all women having polyhydramnios with either a family history of myotonic dystrophy or ultrasonographic evidence of fetal hypotonia, including positional abnormalities of extremities should be offered DNA testing. It appears that prenatal ventriculomegaly may also be ...

PURPOSE Myotonic dystrophy is an autosomal dominant form of muscular dystrophy associated with a mutation that affects a gene on chromosome 19. Extremely low intraocular pressure is one of a constellation of clinical signs that sometimes accompany this disorder. This study was performed to determine if the ocular hypotony can be explained by aqueous humor hyposecretion. METHODS Seventeen pers...

objectives: myotonic dystrophy type i (dm1) is a dominantly inherited disorder with a multisystemic pattern affecting skeletal muscle, heart, eye, endocrine and central nervous system. dm1 is associated with the expansion and instability of ctg repeat in the 3' untranslated region of the myotonic dystrophy protein kinase (dmpk) gene located on chromosome 19q13.3. the aim of this study was ...

Myasthenia gravis and myotonic dystrophy do not usually coexist; however, we present a rare case where both conditions coexisted. Herein, we describe a 34-year-old woman who presented with symptoms of myasthenia gravis with coexisting myotonic dystrophy. She complained of limb weakness, difficulty in chewing and swallowing, and ptosis. She also had myotonia. The patient’s brother also had simil...

We report two cases of myotonic dystrophy in one family; both diagnosed from genetic analysis following ophthalmic indications, but before the manifestation of systemic symptoms. A 39-year-old female visited our clinic for routine examination. Mild ptosis, sluggish pupillary response, and bilateral snowflake cataracts were found. Fundus examination revealed an increased cup-to-disc ratio (CDR) ...

Objective/background. This is a case presentation of a primary multifocal monomorphic and pleomorphic adenoma, with possible association with myotonic dystrophy. Methods/presentation. The patient was a 36-year old woman with myotonic dystrophy with multiple left parotid masses. Biopsy and final pathology demonstrated discrete de novo pleomorphic and monomorphic adenomas. Conclusions/impact. The...