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...

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...

BACKGROUND Myotonic dystrophy type 2 is a multisystem disorder with both neurological and non-neurological signs and symptoms. Seizures are not a commonly associated neurological feature of this disorder. CASE PRESENTATION A 57-year-old white American man presented with a long history of clinical and electrophysiological features of a myotonic disorder. He also developed multiple episodes of ...

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) ...

We report the case of a male patient presenting in his 50s with ptosis, facial and distal limb muscle weakness, clinical electrical myotonia, prior history cataract extraction. He had dominant family keeping similar phenotype. Myotonic dystrophy type 1 was clinically suspected. Triplet-primed polymerase chain reaction diagnostic laboratory did not identify typical CTG repeat expansion on two se...

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 ...

Myotonia is characterized by hyperexcitability of the muscle cell membrane. Myotonic disorders are divided into two main categories: non-dystrophic and dystrophic myotonias. The non-dystrophic myotonias involve solely the muscle system, whereas the dystrophic myotonias are characterized by multisystem involvement and additional muscle weakness. Each category is further subdivided into different...

Patients with myotonic dystrophy often have an irregular pattern of breathing at rest, implying abnormality of breathing control. No central medullary defect has been found in such patients. We postulated that irregular breathing in myotonic dystrophy due to abnormal central respiratory output would persist during slow-wave sleep. We examined the patterns of breathing whilst awake and asleep in...

AIMS Examination of the expression of the mutated allele of myotonic dystrophy protein kinase gene and lens epithelial cell changes in patients with myotonic dystrophy. METHODS Six eyes from three patients with myotonic dystrophy underwent cataract surgery. The lens epithelium was photographed to examine the morphological changes. mRNAs were extracted to determine myotonic dystrophy protein k...