ABSTRACT
Myotonia congenita (MC) is a form of nondystrophic myotonia caused by a mutation of CLCN1, which encodes human skeletal muscle chloride channel (CLC-1). We performed sequence analysis of all coding regions of CLCN1 in patients clinically diagnosed with MC, and identified 10 unrelated Korean patients harboring mutations. Detailed clinical analysis was performed in these patients to identify their clinical characteristics in relation to their genotypes. The CLCN1 mutational analyses revealed nine different point mutations. Of these, six (p.M128I, p.S189C, p.M373L, p.P480S, p.G523D, and p.M609K) were novel and could be unique among Koreans. While some features including predominant lower extremity involvement and normal to slightly elevated creatine kinase levels were consistently observed, general clinical features were highly variable in terms of age of onset, clinical severity, aggravating factors, and response to treatment. Our study is the first systematic study of MC in Korea, and shows its expanding clinical and genetic spectrums.
Subject(s)
Adult , Child, Preschool , Humans , Infant , Male , Young Adult , Amino Acid Sequence , Asian People/genetics , Base Sequence , Chloride Channels/genetics , DNA Mutational Analysis , Exons , Korea , Molecular Sequence Data , Myotonia Congenita/genetics , Point Mutation , Protein ConformationABSTRACT
Technetium 99m hexamethylene-propyleneamine oxime(Tc 99m HM-PAO) SPECT brain imaging was performed in patients with migraine without aura(n=32) and migraine with aura(n-29) during the headache-free period. A regional alteration of tracer uptake into brain was observed in 21 cases of migraine without aura (65.6%, 18 cases : reduction, 3 cases : increment) and in 20 cases of migraine with aura(69%, all cases reduction, including 10 cases : hemiplegic or hemisensory aura, 10 cases only visual aura). In most cases(73.3%) of migraine with aura, the areas of decreased tracer uptake was exclusively concordant with the areas of unilateral aura. The concordance between the area of associated focal neurological symptom(aura) and the area of regional hypoperfmion was observed in 9 cases(69.2%) of hemiplegic or hemisensory aura(13 cases). The concordance between the site of headache and the areas of regional hypoperfusion or hyperperfusion was observed in 30 cases(49.2%) of migraine with or without aura. Therefore an impaired regional cerebral vascular autoregulation may exist even during headache free intervals in patients suffering migraine with or without aura. It may be concluded that migraine attacks occur in association with exacerbation of preexisting change of cerebral autoregulation.
Subject(s)
Humans , Brain , Epilepsy , Headache , Homeostasis , Migraine Disorders , Migraine with Aura , Migraine without Aura , Neuroimaging , Technetium , Tomography, Emission-Computed, Single-PhotonABSTRACT
Congenital myotonia is a benign familial disorder, main problem is muscle stiffness, delayed relaxation of skeletal muscles after voluntary contraction or following mechanical or electrical stimulation. Although weakness is always present with progression of myotonic dystrophy, many patients with myotonia congenita never develop weakness. In the autosomal dominantly inherited form of congenital myotonia (Thomsen's disease), symptoms revolve around myotonia but weakness is not present. However, in the autosomal recessive (Becker's) type congenital myotonia, mild weakness and marked muscle hypertrophy is common. We report two cases of sporadic developing Becker's type congenital myotonia with electrophysiologic and muscle biopsy findings and review of literatures.
Subject(s)
Humans , Biopsy , Electric Stimulation , Hypertrophy , Muscle, Skeletal , Myotonia , Myotonia Congenita , Myotonic Dystrophy , RelaxationABSTRACT
Paroxysmal choreoathetosis (dyskinesia) is classified into two subtypes: paroxysmal kinesigenic choreoathetosis(PKC) and dystonic choreoathetosis(PDC). PKC is also classified into two subgroups (idiopathic & symptomatic). PKC is characterized by choreoathetotic, dystonic and/or tonic movements induced by sudden voluntary movements, without loss of consciousness, urinary incontinence and clonic movement. Symptomatic PKC is associated with neurological disease such as cerebral palsy, multiple sclerosis, hypocalcemia, birth asphyxia, head injury and lesions of basal ganglia and premotor cortex. We report I case of symptomatic PKC, who showed characteristic symptoms of PKC and bilateral lesions of basal ganglia.