36 months observational clinical study of 38 adult Pompe disease patients under alglucosidase alfa enzyme replacement therapy.

Objectives: Glycogen storage disease type 2(GSD2)/Pompe disease is characterized by respiratory and skeletal muscle weakness and atrophy, resulting in functional disability and reduced life span.

Methods: We present an open-label, investigator-initiated observational study of alglucosidase alfa enzyme replacement therapy (ERT) in 38 adult-onset GSD2 patients (20 female, 18 male) with a mean age at disease onset of 36.2 ± 10.

Dermatomyotomal supply in patients with variations in the number of lumbar vertebrae.

Object: Variation in the number of lumbar vertebrae occurs in a small portion of the population. Either the fifth lumbar vertebra shows assimilation to the sacrum or the first sacral vertebra shows a lumbar configuration, resulting in 4 or 6 lumbar vertebrae, respectively. Etiologically, lumbar nerve root syndrome is diagnosed by comparing the anatomical level of the disc herniation to the compressed nerve root and to the pattern of the peripheral sensory and motor deficit.

Muscle hypertrophy of the lower leg caused by L5 radiculopathy.

We report on a case with hypertrophy of the tibial muscles and to a lesser extent of the calf muscles preceded by a lumbar syndrome and sciatica. Lumbar myelography disclosed a discogenic compression of the L5 nerve root. Muscle biopsy of the peroneal muscles showed a marked type I fibre predominance and hypertrophy but no inflammatory infiltration.

Changes in intracortical excitability after successful epilepsy surgery.

Interictal activity from epileptic foci may have remote effects as demonstrable by assessing brain perfusion, metabolism and excitability. So far, the effect of surgical removal of the epileptic focus on cortical networks has only rarely been addressed. This study aims at an assessment of changes in intracortical inhibition and excitability in patients undergoing successful epilepsy surgery.

Polysegmental innervation of the medial paraspinal lumbar muscles.

A retrospective analysis was performed in a nine month period of the electrophysiological data, imaging and clinical findings of patients with monoradicular disc herniation compressing either the L5 or the S1 nerve root. The primary purpose of the analysis was to determine the distribution of pathological spontaneous activity in the medial paraspinal muscles on electromyographic examination in monoradicular L5 and S1 nerve root compression syndromes. Anatomically, the medial paraspinal muscles receive their innervation from a single root while the iliocostalis muscles and the longissimus muscle are thought to be innervated by multiple nerve roots.

Cervical myelopathy caused by soft-tissue mass in diffuse idiopathic skeletal hyperostosis.

A rare case of cervical spinal cord compression in diffuse idiopathic skeletal hyperostosis (DISH or Forestier's Disease) caused by a craniocervical mass of soft-tissue is reported. The objective is to describe an uncommon mechanism of spinal cord compression in DISH. Three weeks after a cardiac infarction a 69-year-old man slowly developed spastic tetraparesis.