INTRODUCTION Myotonic dystrophy is a clinically and genetically heterogeneous multisystem disorder with a prevalence of 1 in 8000 in the general population. CASE PRESENTATION A 25-year-old Ethiopian man presented with symptoms of myotonia, muscle wasting, gait problems, frontal baldness, and family history characterizing the hereditary disorder myotonic dystrophy. He had been on treatment for...

Schwartz-Jampel syndrome (SJS) is a rare disorder characterized by myotonia, joint contracture, facial dysmorphism and growth retardation. We present three siblings (two sisters and one brother) 19, 24 and 27 years old from consanguineous healthy parents with SJS. Their clinical features were similar to those previously described. Motor and sensory nerve conduction study (NCS) were compatible w...

Electromyographic (EMG) and histological studies were carried out with the new mouse mutant myotonia (mto, autosomal recessive). Affected animals exhibited behavioral myotonia which was apparent at 2 weeks of age. EMG studies revealed myotonic discharges (prolonged repetitive discharges with recurrent variation in amplitude and frequency) in all skeletal muscles tested. These discharges were no...

A type of electromyographic activity, formerly referred to as "pseudomyotonia", can be recorded from the striated muscle of the urethral sphincter using a concentric needle electrode. There are two components to this activity, complex repetitive discharges and decelerating bursts. The latter usually dominate recordings and sound very like myotonic discharges. Analysis of these discharges indica...

Myotonia congenita is a rare disease of skeletal muscle characterized by painless myotonia, generalized muscular hypertrophy and a non-progressive course. We report a 10-year-old girl with myotonia, "Herculean appearance" and electromyographic confirmation of myotonic discharges. There was a dramatic response to carbamazepine. The aim of this report is to make the readers aware of this entity w...

Various endocrine manifestations are commonly described in myotonic dystrophy (MD), including primary hypogonadism, diabetes mellitus, and thyroid and parathyroid dysfunction. We describe a 46-year-old woman with a family history of MD with her son. She was diagnosed with cardiac arrhythmia and required the implantation of a pacemaker. She was noted to have a bilateral cataract. She complained ...

s-j syndrome is a rare autosomal recessive disorder of short stature, blepharophimosis, puckerd mouth, myotonia, muscular weakness, pectus carinatum and stiff joints. case report: first case: n.1. a boy aged 7 years. his main abnormalities included puckered lip, blephharophimosis, muscular hypertrophy and weakness, pectus carinatum, short stature, shoulder joint limitation and myopia. myotonic ...

Stiffperson syndrome (SPS) is manifested by increased tone of the trunk muscles that gradually spreads to the limbs. The mechanism underlying this muscle hypertonia involves derangement of the inhibitory action of gaminobutyric acid (GABA) at cortical and spinal levels with subsequent continuous motor unit activity. A cocontraction mechanism with a board-like abdomen and painful lumbar hyperlor...

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...