Peripheral neuropathy in systemic lupus erythematosus.

We studied 33 consecutive patients with systemic lupus erythematosus (SLE) for neuropathy by employing the Neuropathy Symptom Score (NSS), Neurological Disability Score (NDS), EMG and nerve conduction velocity (NCV) studies, and determinations of vibration thresholds (VT). Polyneuropathy defined as NCV abnormalities of two or more nerves occurred in seven patients (21%). Neuropathic symptoms showed a poor correlation with NCV and VT, while clinical neuropathic signs, VT, and NCV correlated with each other in most instances. When reporting frequencies of neuropathy in SLE, NCV studies should be used as a basis. NSS, NDS, and VT give additional quantifiable information and can be useful in the follow-up of patients and for evaluating the response to therapy.

Machado-Joseph disease in three Scandinavian families.

Machado-Joseph disease (MJD) is an autosomal dominantly inherited neurodegenerative disorder characterized by varying age of onset and pronounced phenotypic heterogeneity. The clinical core features include gait ataxia, external ophthalmoplegia, nystagmus, and bulging eyes. Recently, Kawagushi et al. (1994) cloned the MJD1 gene on chromosome 14 and MJD turned out to be the fifth neurodegenerative disease caused by an unstable CAG repeat expansion. We have studied two large Danish families and one Norwegian family with MJD. Three features not previously associated with MJD are reported: dementia, generalized muscle and joint pain, and in one case neuropathological examination revealed atrophy of the inferior olives. We found a significant inverse correlation between age of onset and the length of the CAG repeat expansion, and anticipation is described through four succeeding generations. Instability of the CAG repeat expansion was most pronounced at paternal transmission.

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.

Evaluation of the endocrine functions in dystrophia myotonica.

Investigation of several endocrine functions was performed in seven patients with dystrophia myotonica (DM). All patients had hyperinsulinemia. Whereas the four female patients had normal pituitary-gonadal function, all three male patients presented evidence of a primary gonadal failure. Thyroid function was normal in all patients. Four patients displayed abnormal diurnal variations of cortisol secretion. Basal prolactin levels were elevated in three patients, one of whom also had consistently elevated levels of growth hormone. The investigation adds some new evidence of neuroendocrine dysfunction at the hypothalamic level in DM.

A controlled study of peripheral neuropathy in systemic lupus erythematosus.

In 34 patients with systemic lupus erythematosus (SLE) and 34 age- and sex-matched healthy controls we performed standardized quantifiable neurological testing for neuropathic symptoms (Neuropathic Symptom Score) and deficits (Neurological Disability Score), as well as nerve conduction velocity studies (NCV) and determination of vibration thresholds (VT). SLE patients had more neuropathic symptoms and deficits than controls. Most quantitative and qualitative NCV attributes showed no difference between patients and controls. However, if categorized as NCV abnormalities of 2 or more nerves in each individual, a frequency of polyneuropathy of 21% was seen in SLE patients compared to 6% in controls. VT indicated a slight, but widespread, diffuse polyneuropathy in patients compared to controls.

[Lumbar disk prolapse treated with chymopapain]. / Lumbale skiveprolapser behandlet med kymopapain.

We report results from 108 consecutive patients followed up for one year after chymopapain injection. The patients were selected on strict clinical and radiological criteria. In nine patients (8%) the result was poor, and they were surgically treated within one year after the injection. 99 (92%) patients improved and after one year 87 of these (81% of the total material) had returned full time to their previous occupation. The only serious complication was one case of septicemia and possible discitis. The patient made a full recovery after antibiotic treatment. On the basis of these results, we shall continue to use chymopapain injection to treat selected patients with sciatica caused by herniated lumbar discs.

Muscular weakness in systemic lupus erythematosus.

We systematically evaluated muscular weakness in a series of patients with systemic lupus erythematosus (SLE) using standardized neurological scoring systems, namely Neuropathy Symptom Score for symptoms, and Neurological Disability Score for signs. Symptoms of weakness were statistically associated with clinical and electrophysiological evidence of nerve and muscle disease. Signs of weakness were statistically associated with malaise, disease activity, anemia, age, and raised erythrocyte sedimentation rate. Various disease associated variables influenced symptoms and signs differently. It is important to define a baseline characterizing muscular weakness in SLE before conclusions are drawn regarding its significance and prevalence.

[Moyamoya disease. A rare case of stroke in children?]. / Sykdommen moyamoya. En sjelden årsak til hjerneslag hos barn?

Moyamoya disease is a rare cerebrovascular disease with a wide variety of clinical outcomes. The main signs of the disease are progressive occlusion of the main intracerebral arteries and development of a special network of collateral vessels, Symptomatology can be intermittent, with light neurologic symptoms, or the disease can progress step-wise, with eventual physical and mental deterioration. Several operative methods have been evolved to improve cerebral bloodflow in this disease. We describe three children with Moyamoya disease. Two of them were the first patients offered operation for their disease in Norway. The article describes diagnostic measures, possible pathogenic mechanisms, and treatment.