Discontinuation of carbamazepine due to concerns of long-term consequences of enzyme induction.

Objective: Treatment with carbamazepine (CBZ), a potent enzyme inducer, is known to affect the lipid profile, steroid, and vitamin D metabolism. Consequently, it has been postulated that patients on CBZ should be switched to noninducing antiepileptic drugs (AEDs). However, little is known about the seizure outcome following a CBZ switch in seizure-free patients.

Pain in SCN4A Mutated P.A1156T muscle sodium channelopathy-a postal survey.

Introduction: The p.A1156T mutation alters the function of the voltage-gated sodium channel Nav1.4 on the muscle sarcolemma, causing a channelopathy without overt myotonia or periodic paralysis but with myalgic pain.

Predominantly myalgic phenotype caused by the c.3466G>A p.A1156T mutation in gene.

Objective: To characterize the clinical phenotype in patients with p.A1156T sodium channel mutation.

Methods: Twenty-nine Finnish patients identified with the c.

Critical neural targets for (the level of) human consciousness: Arousal arrest and unconsciousness after sumatriptan administration.

Background: Insufficient understanding of the mechanisms of consciousness can make unconsciousness a diagnostic challenge, directly effecting the treatment and the outcome of the patient. Consciousness is a product of brainstem arousal (wakefulness, the level of consciousness) and cortical information integration (awareness, the contents of consciousness). The thalamus serves as a critical hub in the arousal pathway.

Unique Exercise Lactate Profile in Muscle Phosphofructokinase Deficiency (Tarui Disease); Difference Compared with McArdle Disease.

Introduction: Glycogen storage disease V (GSDV, McArdle disease) and GSDVII (Tarui disease) are the most common of the rare disorders of glycogen metabolism. Both are associated with low lactate levels on exercise. Our aim was to find out whether lactate response associated with exercise testing could distinguish between these disorders.

PFKM gene defect and glycogen storage disease GSDVII with misleading enzyme histochemistry.

Objective: To elaborate the diagnostic methods used as "gold standard" in one of the most common glycogen storage diseases (GSDs), Tarui disease (GSDVII).

Methods: Two siblings with disease suggestive of GSD underwent thorough clinical analysis, including muscle biopsy, muscle MRI, exercise tests, laboratory examinations, and whole-exome sequencing (WES).

Results: Both siblings had juvenile-onset exercise intolerance with cramping and infrequent myoglobinuria.

Diagnostically important muscle pathology in DNAJB6 mutated LGMD1D.

Introduction: Limb girdle muscular dystrophies are a large group of both dominantly and recessively inherited muscle diseases. LGMD1D is caused by mutated DNAJB6 and the molecular pathogenesis is mediated by defective chaperonal function leading to impaired handling of misfolded proteins which normally would be degraded. Here we aim to clarify muscle pathology of LGMD1D in order to facilitate diagnostic accuracy.

Distal myopathies in Finnish patients.

Distal myopathies are a group of rare muscular dystrophies comprising more than 20 different genetic entities. The first distal myopathy in Finland, tibial muscular dystrophy, was identified more than 20 years ago. Muscle weakness predominantly affects the feet and hands, although variable weakness can be detected clinically and on muscle MRI in the proximal muscles in the later stages of the disease.

Novel mutations in DNAJB6 gene cause a very severe early-onset limb-girdle muscular dystrophy 1D disease.

DNAJB6 is the causative gene for limb-girdle muscular dystrophy 1D (LGMD1D). Four different coding missense mutations, p.F89I, p.

Spontaneous activity in electromyography may differentiate certain benign lower motor neuron disease forms from amyotrophic lateral sclerosis.

There is limited data on electromyography (EMG) findings in other motor neuron disorders than amyotrophic lateral sclerosis (ALS). We assessed whether the distribution of active denervation detected by EMG, i.e.

Atypical phenotypes in titinopathies explained by second titin mutations.

Objective: Several patients with previously reported titin gene (TTN) mutations causing tibial muscular dystrophy (TMD) have more complex, severe, or unusual phenotypes. This study aimed to clarify the molecular cause of the variant phenotypes in 8 patients of 7 European families.

Methods: Clinical, histopathological, and muscle imaging data of patients and family members were reanalyzed.

[The expanding spectrum of LGMD--recently discovered disease genes are important also in Finnish patients].

Limb-girdle muscular dystrophies (LGMD) are autosomal disorders with a range of manifestations varying from almost asymptomatic late-onset patients to severe childhood onset forms. Recently identified disease genes explain the majority of LGMD cases in Finland. Prognosis, potential cardiac and respiratory complications and symptomatic treatment options differ in different LGMD subtypes.

New immunohistochemical method for improved myotonia and chloride channel mutation diagnostics.

Objective: The objective of this study was to validate the immunohistochemical assay for the diagnosis of nondystrophic myotonia and to provide full clarification of clinical disease to patients in whom basic genetic testing has failed to do so.

Methods: An immunohistochemical assay of sarcolemmal chloride channel abundance using 2 different ClC1-specific antibodies.

Results: This method led to the identification of new mutations, to the reclassification of W118G in CLCN1 as a moderately pathogenic mutation, and to confirmation of recessive (Becker) myotonia congenita in cases when only one recessive CLCN1 mutation had been identified by genetic testing.

Mutations affecting the cytoplasmic functions of the co-chaperone DNAJB6 cause limb-girdle muscular dystrophy.

Limb-girdle muscular dystrophy type 1D (LGMD1D) was linked to chromosome 7q36 over a decade ago, but its genetic cause has remained elusive. Here we studied nine LGMD-affected families from Finland, the United States and Italy and identified four dominant missense mutations leading to p.Phe93Leu or p.

Distinct distal myopathy phenotype caused by VCP gene mutation in a Finnish family.

Inclusion body myopathy with Paget disease and frontotemporal dementia (IBMPFD) is caused by mutations in the valosin-containing protein (VCP) gene. We report a new distal phenotype caused by VCP gene mutation in a Finnish family with nine affected members in three generations. Patients had onset of distal leg muscle weakness and atrophy in the anterior compartment muscles after age 35, which caused a foot drop at age 50.

Four new Finnish families with LGMD1D; refinement of the clinical phenotype and the linked 7q36 locus.

The objective is to refine the clinical and morphological phenotype and the chromosomal region of interest, in the recently reported 7q36 linked autosomal dominant limb-girdle muscular dystrophy (LGMD1 D/E), by describing four new informative Finnish families. Examinations of the patients included serum CK, neurophysiological studies, cardiac and respiratory function examinations, muscle biopsies and muscle imaging. DNA samples were analyzed by genotyping.

The enigma of 7q36 linked autosomal dominant limb girdle muscular dystrophy.

Introduction: Two families with autosomal dominant limb girdle muscular dystrophy (LGMD) have previously been linked to a locus on chromosome 7q36 10 years ago. The locus has been termed both LGMD1D and 1E, but because of lack of additional families to narrow down the linked region of interest, this disease has remained elusive.

Methods: A large Finnish family was clinically and genetically investigated.