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The likelihood of coexistence in the same patient of myasthenia gravis and myotonic dystrophy has been estimated at 1 in 40 million. The case of a patient in whom both diagnoses were made is reported here. A 13-year-old girl was diagnosed with myasthenia gravis because of weakness, fluctuating fatigability, and mild difficulty with chewing and swallowing. She had ptosis, with weakness predominantly of her face, arms, and neck. Serum antibodies against acetylcholine receptors were 9.9 nmol/L. She was started on pyridostigmine, with significant clinical improvement, reassuming normal daily activities. Two years later, generalized weakness reappeared and reappraisal of her symptomatology disclosed tongue percussion and hand action myotonia. Molecular genetic analysis disclosed 550 repeats of cytosine-thymidine-guanosine triplets on the DMPK gene. Undiagnosed relatives had expansions ranging from 110 to 1000 repeats. Myotonic dystrophy is considered the most common muscular dystrophy, with highly variable clinical manifestations; mildly affected individuals may escape clinical detection. Myasthenia gravis has an estimated prevalence of 15 per 100,000. No studies on the epidemiology of these diseases have been done in Chile. Although both diseases have specific clinical and laboratory presentations, they share some features in the mode of presentation that may generate difficulty in diagnosis of both entities in the same patient.
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PMID:Myotonic dystrophy in a female with myasthenia gravis. 1756 May 8

Myotonic dystrophy type 1 (DM1) is an autosomal-dominant multisystemic disorder that may rarely be associated with benign and malignant neoplasms. Cases of both thymoma and myasthenia gravis in association with DM1 are extremely rare. A literature review revealed only three prior reports. We present a 51-year-old man with a family history of DM1 and fluctuating diplopia and ptosis, who was found to have acetylcholine receptor-binding antibodies, thymoma, and a clinical presentation compatible with ocular myasthenia gravis as well as positive genetic testing for DM1. Needle electromyographic (EMG) study demonstrated diffuse runs of myotonic discharges in multiple muscles, consistent with the diagnosis of DM1. Single-fiber EMG showed both increased jitter and blocking. Due to somatic instability, which has been shown previously in DM1, the myotonin protein kinase (DMPK) gene appears to act as a tumor suppressor. Therefore, abnormal CTG repeat expansions in the gene could lead to the development of thymoma and myasthenia gravis.
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PMID:Myotonic dystrophy type 1 coexisting with myasthenia gravis and thymoma. 1856 24

Myotonic dystrophy (MD) is rare disease that offers challenges to anesthesiologists. We report a case of adult patient with myotonic dystrophy who underwent laparoscopic cholecystectomy. A 48-year-old male patient, known case of MD, was presented for laparoscopic cholecystectomy. Physical examination revealed, young man, calm, quite, cooperative, not in pain or distress with frontal baldness, temporal bone recession, elongated face, mild degree of ptosis and swan neck. Under complete aseptic conditions, thoracic epidural T6-7 with catheter insertion was performed while the patient was placed on left lateral side. Plain bupivacaine 0.5% 7cc was injected through the catheter. Level of analgesia tested with ice reached up to T4. Intravenous sedation was achieved with midazolam 2 mg and ketamine 50 mg. The patient was comfortably lying supine on warm heated mattress, except of bilateral shoulder pains which was relieved with midazolam and ketamine. In conclusion, regional anesthesia, spinal or epidural, is preferable in MD patients. Shoulder pains is the main intraoperative problem encountered in our patient. Therefore, studies are needed for treating shoulder pain. To the best of our knowledge, this is the first case report in a patient with MD who underwent laparoscopic cholecystectomy under thoracic epidural analgesia. Myotonic dystrophy (M) is rare disease and represents challenges to anesthesiologists. We report a case of adult patient with myotonic dystrophy who underwent laparoscopic cholecystectomy.
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PMID:Anesthetic management of a patient with myotonic dystrophy for laparoscopic cholecystectomy--a case report. 1863 13

A 46-year-old man presented with visual disturbances in both eyes. His best corrected visual acuity was 0.7 (both eyes). Ptosis and limitation of ocular movement in every direction were observed. Slit lamp examination showed a bilateral iridescent cataract. Fundus examination showed peripheral depigmentation of the retinal pigment epithelium and pigmentary clumping in both eyes that agreed with blocked fluorescence and widow defects on fluorescein angiography. The amplitude of b-wave was decreased on electroretinography. Fourteen months later, the patient's best corrected visual acuity decreased to 0.3 due to increased lens opacity. Phacoemulsification and intraocular lens implantation were performed on both eyes. At the patient's final visit, retinal findings were stable with a best corrected visual acuity of 0.7 in both eyes. In conclusion, the visual disturbance could have been caused by both cataracts and retinal degeneration, meaning the fundus should be examined carefully in patients with myotonic dystrophy.
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PMID:A case of myotonic dystrophy with pigmentary retinal changes. 1956 64

Myotonic dystrophy (DM1) is the most prevalent muscular dystrophy occurring in adulthood. DM1 is a multi-systemic disorder resulting in early-onset cataracts, cardiac rhythm problems, muscle weakness, ptosis, and cognitive and psychiatric manifestations. Dysphagia is one of the most problematic symptoms of DM1 because it may cause weight loss, aspiration pneumonias or sudden death. The purpose of this review is to describe the characteristics of DM1 that make dysphagia management problematic, and to address the need for disease-specific guidelines and a clinical tool to aid in diagnosing and managing dysphagia in this population.
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PMID:Myotonic dystrophy (DM1) and dysphagia: the need for dysphagia management guidelines and an assessment tool. 2156 Aug 85

Myotonic dystrophy Curschmann-Steinert is a genetic disease which is inherited in an autosomal dominant pattern. Patients usually suffer from myotonia, muscular atrophy and weakness and myopathic facies. Furthermore, patients often present with ophthalmological symptoms with subcapsular cataract and bilateral ptosis being the most frequent ones. Therefore the ophthalmologist can help to detect patients suspected of having this disease and initiate further investigations. Despite clinically distinct findings, the disease is often overlooked because of the diversity of symptoms and clinical manifestations.
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PMID:[Cataract in a young patient]. 2169 48

Myotonic Dystrophy Type 1 (DM1) is the most common worldwide autosomal dominant muscular dystrophy due to polynucleotide [CTG]( n ) triplet expansion located on the 3'UTR of chromosome 19q13.3. A toxic gain-of-function of abnormally stored RNA in the nuclei of affected cells is assumed to be responsible for several clinical features of the disease. It plays a basic role in deregulating RNA binding protein levels and in several mRNA splicing processes of several genes, thus leading to the multisystemic features typical of DM1. In DM1, the musculoskeletal apparatus, heart, brain, eye, endocrine, respiratory and gastroenteric systems are involved with variable levels of severity. DM1 onset can be congenital, juvenile, adult or late. DM1 can be diagnosed on the grounds of clinical presentation (distal muscular atrophy and weakness, grip and percussion myotonia, ptosis, hatchet face, slurred speech, rhinolalia), EMG myotonic pattern, EKG (such as AV-blocks) or routine blood test abnormalities (such as increased CK values or hypogamma-globulinemia) and history of cataract. Its confirmation can come by DNA analysis. At present, only symptomatic therapy is possible and is addressed at correcting hormonal and glycemic balance, removing cataract, preventing respiratory failure and, above all, major cardiac disturbances. Efficacious therapies targeted at the pathogenic mechanism of DM1 are not yet available, while studies that seek to block toxic RNA intranuclear storage with specific molecules are still ongoing.
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PMID:Myotonic Dystrophy Type 1 or Steinert's disease. 2241 Dec 47

Oculopharyngodistal myopathy is a clinicopathologically distinct muscular disease. The underlying genetic defect has not been identified. We report here a 43-year old woman with asymmetric bilateral ptosis, dysphonia, swallowing difficulties, and weakness of the distal leg muscles. Serum creatine kinase was moderately increased. Electromyography revealed myopathic changes and myotonic discharges. Both cardiologic and pneumologic evaluation did not reveal abnormalities. Muscle computed tomography images showed adipose tissue replacement of abdominis rectus, lateral vastus, adductor magnus, and both the posterior and anterior compartment muscles below the knee, with prevalent involvement of medial gastrocnemius muscle. Muscle biopsy uncovered changes in fiber size and the presence of atrophic fibers with rimmed vacuoles of varying diameter, and core-like structures in type I fibers. Diagnosis was performed according to clinical and histopathologic findings, which were fully consistent with the other reported patients, and on the genetic exclusion of similar conditions such as oculopharyngeal muscular dystrophy, myotonic dystrophy type 1 and multi-minicore disease associated to RYR1 mutations. Differential diagnosis with mitochondrial myopathies, facioscapulohumeral muscular dystrophy and distal myopathies was also considered. This is the first Italian case of oculopharyngodistal myopathy, further suggesting the worldwide distribution of this rare neuromuscular disorder.
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PMID:The first Italian patient with oculopharyngodistal myopathy: case report and considerations on differential diagnosis. 2265 77

Myotonic dystrophy is the most common autosomal dominant myopathy in adults. Our patient, a 41 year-old female suffering from myotonic muscular dystrophy, developed upper thoracic myelopathy due to hypertrophy of the ligamentum flavum and the posterior longitudinal ligament. She had a typical hatchet face and ptosis with "head hanging forward" appearance caused by neck weakness. Motor weakness, sensory changes and severe pain below T4 level, along with urinary incontinence began 3 months ago. Genetic and electrodiagnostic studies revealed myotonic dystrophy type 1. Magnetic resonance imaging of the spine showed loss of cervical lordosis and spinal cord compression due to hypertrophied ligamentum flavum and posterior longitudinal ligament at T1 to T3 level. We concluded that her upper thoracic myelopathy was likely related to the thickness of the ligamentum flavum and posterior longitudinal ligament due to repetitive mechanical stress on her neck caused by neck muscle weakness with myotonic dystrophy.
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PMID:Upper thoracic myelopathy caused by delayed neck extensor weakness in myotonic dystrophy. 2297 86

Myotonic dystrophy (DM) encompasses two gene defects, DM1 (myotonic dystrophy type 1) being currently the sole disorder leading to a childhood form of the disease. As consequence of the non coding unstable CTG repeat expansion mutation, DM1 presents as an extremely wide and diverse clinical continuum ranging from antenatal to late adult forms, the complexity of the disease being reinforced by multisystemic involvement. The congenital form appears as the most severe end of the phenotypic spectrum and may include marked neonatal hypotonia, respiratory failure, facial diplegia, contractures, and mental retardation. Brain involvement is the hallmark of childhood-onset DM1, distinguished by a normal neonatal period, with learning difficulties as the main presenting symptom, resulting from various degrees of mental delay, psychopathological manifestations, speech defects, hypersomnolence, and fatigue. In contrast, muscle weakness remains usually moderate in childhood, limited to facial weakness, ptosis, and dysarthria, until a decline from the second decade. Orthopedic manifestations including kyphoscoliosis and equinovarus may require surgery. Other organs involvement includes frequent abdominal symptoms, whereas endocrine disturbance is rare. Symptomatic cardiac arrhythmia, mainly exercise-induced, can be observed. While current treatment is mainly symptomatic, future clinical trials are expected following significant progress in pathophysiology and the recent development of molecular therapy approaches.
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PMID:Congenital and infantile myotonic dystrophy. 2362 62


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