Myoclonus-dystonia and epilepsy in a family with a novel epsilon-sarcoglycan mutation.

Seizures have been reported in two families with myoclonus-dystonia due to epsilon-sarcoglycan (SGCE) mutations. We report a Norwegian family with myoclonus-dystonia and epilepsy associated with a novel SGCE mutation. All six manifesting SGCE mutation carriers had myoclonus, and dystonia was present in two patients. Sequencing of the SGCE gene in the proband identified a novel frameshift c.372delG mutation that predicts the amino acid change [p.Lys125SerfsX7] and the formation of a premature stop codon. The mutation segregated with myoclonus-dystonia in the family. The typical motor symptoms were accompanied by generalized seizures in four of six affected mutation carriers. The seizure type included febrile, absence and generalized tonic-clonic seizures. One deceased patient with severe epilepsy and myoclonus could not be tested for the SGCE mutation. Seizures are rarely observed in myoclonus-dystonia patients with SGCE mutations, and may not be a part of the phenotype. The co-occurrence of seizures and myoclonus-dystonia suggests that they are both due to the same underlying SGCE mutation. However, with epilepsy being a relatively common disorder and lack of complete co-segregation in our and previous families, it is possible that some patients suffer from two different genetic disorders. The presence of seizures and EEG abnormalities should not be considered exclusion criteria for the diagnosis of myoclonus-dystonia.

Focal myositis--neurogenic phenomenon?

We report four cases of focal myositis. The patients, three men and one woman, had painful muscle hypertrophy, affecting four different sites. MRI confirmed the muscle enlargement and oedema. Electromyography revealed evidence of acute and chronic denervation in all four cases. Muscle biopsy was available in three and confirmed features suggestive of focal myositis. Based on our patient material, we suggest that chronic nerve irritation, such as compression, can lead to muscle hypertrophy which, when prolonged, provokes fibre necrosis and secondary inflammation. Our finding in four patients having hypertrophy involving four different sites, leads us further to suggest that this may be the common mechanism behind focal myositis.

POLG1 mutations cause a syndromic epilepsy with occipital lobe predilection.

The epileptic semiology of 19 patients (from 15 families) with mitochondrial disease due to mutations in the POLG1 gene is presented. The patients were either homozygous for the 1399G > A (p.A467T) or 2243G > C (p.W748S) mutations or compound heterozygotes for these two mutations. While the clinical features have been reviewed, detailed analysis of their epilepsy is presented for the first time. Irrespective of genotype, patients developed an epileptic syndrome with initial features of occipital lobe epilepsy. Occipital seizure phenomena included flickering coloured light, sometimes persisting for weeks, months or even years, ictal visual loss, horizontal/vertical nystagmus or oculoclonus, dysmorphopsia, micro-/macropsia and palinopsia. Most patients developed simple partial seizure phenomena with motor symptoms suggesting frontal lobe seizure initiation or spread. Simple and complex partial seizures, clonic- and/or myoclonic seizures with epilepsia partialis continua and frequent convulsive status epilepticus were observed in this syndrome that appears to be a symptomatic and secondary generalized or multifocal epilepsy with focal occipital predilection. The mean age of seizure presentation was 18.4 years (6-58 years). All patients developed status epilepticus and 11 patient deaths were, all related to prolonged convulsive status epilepticus, including two with liver failure apparently precipitated by treatment with sodium valproate.

[Status epilepticus]. / Status epilepticus.

The review defines status epilepticus and discusses treatment options for convulsive and nonconvulsive status epilepticus. The drug of choice in Norway is diazepam intravenously (0.25 mg/kg), followed by phosphenytoin or sodium valproate intravenously and barbiturate narcosis. Other treatment options are discussed. Underlying causes must be addressed for therapeutic intervention. Given early treatment, the prognosis is generally good.

Long-term follow-up of patients with nonparalytic poliomyelitis.

OBJECTIVE: To examine patients with previous nonparalytic poliomyelitis in search of muscle atrophy, weakness, and other late symptoms of poliomyelitis. DESIGN: A mailed questionnaire followed up with neurologic and neurophysiologic examinations of respondents who reported symptoms possibly related to the late sequelae of polio. SETTING: Neurology department at a university hospital. PARTICIPANTS: Thirty-nine of 47 patients diagnosed with nonparalytic poliomyelitis and hospitalized at a Norwegian hospital between 1950 and 1954, during the Norwegian polio epidemic. INTERVENTIONS: Not applicable. MAIN OUTCOME MEASURES: Electromyography to determine function of the anterior tibialis, vastus lateralis, and biceps brachii muscles; nerve conduction studies of the sural, peroneal, and tibial nerves; motor and sensory nerve conduction velocity, and compound muscle and sensory nerve action potentials, and distal latencies. RESULTS: Twenty-five of 47 patients (53.2%) reported symptoms possibly related to the late sequelae of poliomyelitis. Eight of 20 examined symptomatic patients had normal neurologic and neurophysiologic findings, whereas 9 others had other medical conditions that could explain the symptoms. Three patients (6.7%) had neurologic and neurophysiologic findings and development of symptoms consistent with motoneuron damage. CONCLUSION: Some nonparalytic patients may have subclinical acute motoneuron damage with subsequent development and manifestation of motor weakness and neuromuscular symptoms many years later. These symptoms should be considered a differential diagnosis in patients who have a history of nonparalytic poliomyelitis.