1/8. Proximal myotonic myopathy: clinical, electrophysiological and pathological findings in a family.Proximal myotonic myopathy (PROMM) is an autosomal dominant muscle disorder characterized by proximal weakness, myotonia, muscle pain and cataract. It resembles Steinert myotonic dystrophy (MD), but weakness is proximal, without facial muscle involvement, and the chromosome 19 CTG trinucleotide repeat expansion characteristic of MD is not present. We describe a further family with PROMM. Affected members complained of weakness of lower limbs or of myotonia. EMG revealed diffuse myotonic discharges. Muscle histology showed dystrophic abnormalities. The PROMM phenotype varies, even in the same pedigree, and may mimic MD or limb-girdle muscle dystrophy. EMG is particularly useful, since it may disclose myotonic discharges even in the absence of overt myotonia. Thus far it is not known whether PROMM is a single entity, or if it represents a heterogeneous group of disorders. This question will probably soon be settled through genetic analysis.- - - - - - - - - - ranking = 1keywords = dystrophy (Clic here for more details about this article) |
2/8. Proximal myotonic myopathy: clinical and molecular investigation of a Norwegian family with PROMM.Proximal myotonic myopathy (PROMM) was first described in 1994 as a multisystem disorder with similarity to myotonic dystrophy (DM), but without the abnormal (CTG)n expansion in the DM protein kinase (DMPK) gene. The inheritance is autosomal dominant and the clinical features include myotonia, proximal muscle weakness and cataract. Linkage analysis in nine German PROMM families has indicated the possibility of linkage to DM2 locus on chromosome 3. We report a Norwegian PROMM family in which the proband was clinically diagnosed as DM but without the (CTG)n expansion. Using an intragenic marker we showed that the DMPK gene did not segregate with the disease in this family. All family members are heterozygous for the R894X mutation in CLCN1 gene. Linkage analysis could not be performed, but haplotyping probably excludes the DM2 locus as the disease locus in this family. The present family emphasises that myalgia is a prominent symptom in PROMM and the clinical differences may be explained by genetic heterogeneity. This family will be reinvestigated along with the identification of candidate genes or regions in larger PROMM families.- - - - - - - - - - ranking = 0.5keywords = dystrophy (Clic here for more details about this article) |
3/8. hypothyroidism unmasking proximal myotonic myopathy.No specific diagnostic test is available to identify patients with proximal myotonic myopathy and to distinguish them from common disorders causing similar complaints. We describe three patients from three separate families who were initially diagnosed as having hypothyroid myopathy. Proximal weakness, stiffness and myotonia have persisted in each patient (2-10 years) despite the restoration of the euthyroid state. A familial pattern of autosomal dominant inheritance for proximal weakness, myotonia, and cataracts was clearly identified in one family and was likely in the other two families. dna testing showed normal size of CTG repeat in the gene for myotonic dystrophy. The clinical presentation of these three patients strongly suggests that hypothyroidism can unmask PROMM in asymptomatic individuals who carry the genetic abnormality. Other cases of 'hypothyroid myopathy' may represent examples of unmasked PROMM.- - - - - - - - - - ranking = 0.5keywords = dystrophy (Clic here for more details about this article) |
4/8. Proximal myotonic myopathy: clinical, neuropathologic, and molecular genetic features.The primary genetic abnormality in myotonic dystrophy (DM) is an expansion of the CTG trinucleotide repeat on chromosome 19q. Recently, patients with similar clinical features, but without this genetic alteration, have been designated as proximal myotonic myopathy (PROMM). We describe two additional cases of PROMM, both of whom presented with clinical features suggestive of myotonic dystrophy. The patients had electromyographic (EMG) evidence of myotonia, normal cardiac evaluation, and no cataracts. Genetic analysis of peripheral blood leukocytes revealed no expansion of the trinucleotide repeat by polymerase chain reaction (PCR) and Southern blot analysis. Muscle biopsies in both cases were significant with features suggestive of myotonic dystrophy, such as large numbers of fibers containing multiple internal nuclei, occasional nuclear chains, and fiber atrophy, although sarcoplasmic masses and ring fibers were absent. These cases illustrate the clinical and neuropathologic findings of PROMM and underline the importance of correlating these aspects with genetic studies in patients with myotonic muscle disorders.- - - - - - - - - - ranking = 1.5keywords = dystrophy (Clic here for more details about this article) |
5/8. Proximal myotonic myopathy and proximal myotonic dystrophy: two different entities? The phenotypic variability of proximal myotonic syndromes.Multisystemic myotonic myopathies are characterised by a variable pattern of symptoms and signs and a variable degree of disease severity. Proximal myotonic dystrophy has been described as an entity distinct from proximal myotonic myopathy because of severe proximal muscle weakness and dystrophic changes on magnetic reasonace imaging and on muscle histopathology. We describe two siblings, one of them presenting with a proximal myotonic myopathy phenotype, the other with a proximal myotonic dystrophy-like phenotype. The variability of disease expression in these two siblings suggests that a proximal myotonic dystrophy-like variant may occur in proximal myotonic myopathy.- - - - - - - - - - ranking = 3.5keywords = dystrophy (Clic here for more details about this article) |
6/8. A patient with proximal myotonic myopathy and parkinsonism.INTRODUCTION: There are two case reports of patients who had proximal myotonic myopathy (PROMM)/myotonic dystrophy (DM) Type 1 and parkinsonism. The combination of myotonic myopathy and parkinsonism is so rare that it may appear to be just a coincidence. However, previous neuropathological examinations of patients who had myotonic dystrophy showed that there were intracytoplasmic inclusion bodies in the nigra and striatum, which raises the possibility that myotonic myopathy may be associated with parkinsonism. In this report we describe a patient with PROMM and a clinically definite parkinsonism to highlight this possibility. CASE REPORT: A 65-year-old man developed proximal muscle weakness, myotonia and atrophy around the age of 55 and was diagnosed as having PROMM at the age of 62. Needle electromyography and muscle biopsy supported the diagnosis. A gene study of the DM Type 1 showed a normal CTG repeat length. At age 63, he developed rest tremor, bradykinesia, hypomimia, stooped posture, and gait disturbance. The postural instability worsened rapidly. The tremor and rigidity were much worse in his right side, where myotonia was more severe. levodopa therapy was only partially effective. CONCLUSION: This is a case report of a patient with PROMM that shows an association with a rapidly progressive form of parkinsonism. We suggest that this may be a novel form of a neurodegenerative disorder, which we name 'Parkinsonism-Myotonic Myopathy-Complex'.- - - - - - - - - - ranking = 1keywords = dystrophy (Clic here for more details about this article) |
7/8. Myotonias and army personnel: symptoms and effects on service fitness.Myotonias are rare disorders characterized by difficulties in skeletal muscle relaxation. Either dominant or recessive modes of inheritance are possible. Underlying gene mutations cause defects in the ion channels of the muscle membranes. Previously undiagnosed myotonias may occur among military conscripts. We report here eight such patients with enhanced symptoms of myotonia during their military service. Six patients had myotonia congenita, one had myotonic dystrophy, and one paramyotonia congenita. In myotonia congenita, serum creatine kinase and aldolase levels correlated with the recommended service fitness classification. Because some anesthetic agents may have unfavorable side effects in myotonia, both patients and anesthesiologists need to be aware of the diagnosis. The awareness of military surgeons regarding the possibility of myotonia is necessary to provide a correct diagnosis and to establish the service fitness of these patients.- - - - - - - - - - ranking = 0.5keywords = dystrophy (Clic here for more details about this article) |
8/8. Proximal myotonic dystrophy associated with parkinsonism.Although mental changes and cognitive disorders are seen frequently in myotonic dystrophy (MD) there are only three cases of MD associated with parkinsonism reported in the literature. We report another case of this extremely rare combination.- - - - - - - - - - ranking = 2.5keywords = dystrophy (Clic here for more details about this article) |