Myopathies, although presenting more commonly in the younger age group, can occur and contribute signifi cantly to disability in the elderly. To describe the spectrum of elderly myopathies, we reviewed 52 elderly patients (> 65 years) from the University of Malaya Medical Centre muscle biopsy databank, constituting 6.8% of 759 adult patients (> 18 years) who underwent muscle biopsy between 1992 and 2012. Commonest were the infl ammatory myopathies (41/52, 78.8%), of which 43.9% had dermatomyositis; 23.9% polymyositis; 14.6% sporadic inclusion body myositis; 9.8% undifferentiated myositis and 2.4% overlap myositis. Seven patients (13.4%) had genetic myopathy; 2 muscular dystrophy and 5 chronic progressive external ophthalmoplegia, while 4 patients (7.7%) had drug-associated myopathy, 3 with statins. Malignancies were seen in 9.8% of infl ammatory myopathies at diagnosis. Both acquired and genetic myopathies are seen in elderly Malaysians of all ethnicities and should not be misdiagnosed as some are potentially treatable and/or associated with malignancy.

Mitochondrial DNA (mtDNA) deletions are a major cause of chronic progressive external ophthalmoplegia (CPEO) and Kearns-Sayre syndrome (KSS). We analyzed single mtDNA deletions in 11 CPEO and one KSS patients by means of Southern blot and long polymerase chain reaction (PCR) assays. The deletion sizes ranged from 3.4 kb to 6.9 kb whereas the heteroplasmy level varied from 18.8% to 85.5%. Two unique deletions sized 4320 bp and 4717 bp were found. This study represents the first genetic screen of mtDNA disorders in Malaysia, and it follows the data seen in other published reports on CPEO and KSS genetic aetiology.

We report a patient who presented with severe cold-induced allodynia and hyperhidrosis, and found to have acquired neuromyotonia (Isaacs syndrome) with high voltage-gated potassium channel (VGKC) antibody titre,positive contactin-associated protein 2 (CASPR2) and leucine-rich glioma-inactivated 1 (LGI1) antibodies. The patient also had positive anti-dsDNA and acetylcholine receptor (AChR) antibodies without clinical features of SLE or myasthenia gravis, suggesting a strong underlying autoimmune tendency. CT thorax showed no thymoma. Her symptoms improved with intravenous immunoglobulin infusion but recurred despite maintenance oral corticosteroids and carbamazepine. She has since been on regular IVIG infusions. Cold allodynia is an unusual presentation in acquired neuromyotonia.

Increase in cross-sectional muscle area of major muscle groups associated by heavy resistance training has been well documented. However, there has been no published article of changes in the inferior orbicularis oculi muscle when heavy resistance training is applied. We present a case of inferior orbicularis hypertrophy detected on MRI in a gentleman who practised heavy resistance training using his lower eyelids.

Nipah virus infection is known to cause late-onset and relapsed encephalitis, in addition to an acute encephalitic illness. This is a report of a 35 years old woman, who had exposure to the Nipah virus infection during the 1999 Malaysian outbreak, was positive for Nipah IgG by immunofl uorescence, and had multiple small hyperintense lesions in brain MRI typically seen in acute Nipah encephalitis patients, indicating asymptomatic Nipah virus infection. She subsequently developed acute encephalitis after 11 years, manifesting as diplopia, internuclear opthalmoplegia and epileptic seizures with pleocytosis in cerebrospinal fl uid examination. She had another episode of relapsed encephalitis a year later, with seizures, memory impairment, chorea and new lesions in MRI brain. This patient is unusual in the long incubation of 11 years before manifesting with late-onset Nipah encephalitis.

Ultrasound criteria for carpal tunnel syndrome (CTS) may vary in different populations. To determine the ultrasonographic criteria for CTS in a Malaysian population and compare its usefulness with nerve conduction studies (NCS), we studied patients clinically diagnosed with CTS and normal controls by ultrasonography. All patients also underwent standard NCS. Median nerve Cross-Sectional Area (CSA) and Flattening Ratio (FR) at 3 different levels – proximal to tunnel inlet, at tunnel inlet and tunnel outlet were measured. Receiver operator characteristic (ROC) analyses were used to calculate the optimal discriminatory threshold values for CTS. Of 54 CTS hands, NCS was positive in 85.2%. Median nerve CSA at all 3 levels, were signifi cantly greater in CTS hands.FR was signifi cantly greater at tunnel inlet. A CSA threshold of 0.1 cm2 proximal to and at tunnel inlet had sensitivities of 70.4% and 63% and specifi cities of 85.2% and 88.5 % respectively. CSA at tunnel outlet had lower specifi city. If CSA of 2 levels (viz. proximal to or at tunnel inlet) were considered together, sensitivity and specifi city improved to 81.5% and 83.3%. Qualitative loss of fascicular discrimination of the nerve proximal to the inlet had sensitivity and specifi city of 77.8% and 96.3%. The most useful ultrasonographic parameter was median nerve CSA either proximal to or at tunnel inlet. However, the sensitivities were lower compared to NCS. Qualitative appearance of the median nerve is a useful adjunct to diagnosis. In conclusion, ultrasonography play an important complementary role to NCS in the diagnosis of CTS.

Botulinum toxin injection is an effective treatment for hemifacial spasm by causing pre-synaptic block at the neuromuscular junction. Its effects are temporary and repeated injections are required to maintain benefi t. Mild, permanent facial weakness is often thought to be due to prolonged nerve compression. To investigate the possibility of a chronic and persistent effect of botulinum toxin on neuromuscular transmission, we carried out stimulated single-fi bre electromyography to compare jitter of the affected orbicularis oculi in previously treated and treatment naïve hemifacial spasm patients. Previously treated patients were studied when the acute effects of the last botulinum toxin injection had worn off. We found mean jitter was signifi cantly higher in previously treated patients. Although, treated patients had longer duration of hemifacial spasm, mean jitter was dependent only on the number of previous botulinum injections and independent of the duration of hemifacial spasm and time from the last injection. This suggests a persistent and cumulative effect of botulinum toxin on neuromuscular transmission in patients treated for hemifacial spasm.

Objective: To report on the incidence, and the clinical and laboratory features of patients seen at the University of Malaya Medical Centre with anti-N-methyl-D-aspartate receptor (NMDAR) encephalitis. Methods: The charts of all patients admitted to the adult neurology ward with encephalitis over an 18- month period from January 2010 to June 2011 were reviewed. Diagnosis of anti-NMDAR encephalitis was based on the presence of encephalitis plus antibody against the NMDAR. Two other paediatric patients with anti-NMDAR encephalitis seen over the same period were also included in this report. Results: There was a total of 10 patients with anti-NMDAR encephalitis seen over the study period. The mean age was 18.1 years (range 9-29 years). Eight patients were female, two male. Five were Malay and fi ve were Chinese. All patients had prominent psychiatric symptoms, followed by epileptic seizures. Nine patients had a movement disorder, orofacial dyskinesia being the commonest, and all had autonomic involvement. None had an underlying tumour. Treatments consisted of corticosteroid, plasma exchange and intravenous immunoglobulin (IVIG). The clinical outcome was variable, with full recovery (2), substantial recovery (3), partial recovery (4), and mortality (1) seen. Remarkably, the eight adult cases of anti-NMDAR encephalitis accounted for 50% of the 16 cases of encephalitis seen during the study period. Conclusion: Anti-NMDAR encephalitis may be a relatively common cause of adult encephalitis among certain Asian groups. None of our cases was paraneoplastic in origin.

Accidental carbon monoxide poisoning in countries with cold climates is commonly related to indoor heating. This condition appears to be relatively uncommon in tropical Asian countries and therefore the diagnosis may be unsuspected. We report a case of a Malaysian patient who presented with a severe, and ultimately fatal, delayed (biphasic) neuropsychiatric syndrome due to carbon monoxide poisoning. The diagnosis was made only when a history compatible with carbon monoxide poisoning subsequently surfaced, and neuroimaging demonstrated the typical pallidal lesions, associated with marked leukoencephalopathy, seen in this condition. Our case is unique because the poisoning occurred in the setting of indoor operation of a portable electricity generator in a karaoke centre because of power failure. Karaoke is a highly popular form of entertainment in many parts of Asia and we suggest that a high index of suspicion of carbon monoxide poisoning is required in this setting.

A cohort of Malaysian patients with clinico-pathological diagnosis of three specifi c mitochondrial encephalomyopathy syndromes comprising of mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes (MELAS), myoclonus epilepsy with ragged-red fi bers (MERRF) and Leigh syndrome were studied to determine the frequency of their common mitochondrial DNA mutations. The ‘hot-spot’ point mutations for MELAS, MERRF and Leigh syndrome were screened. In the absence of common point mutations, screening of large-scale deletions as well as sequencing of tRNALeu and tRNALys genes were performed. Of 22 patients studied, nine m.3243A>G mutations, four m.8344A>G mutations, one m.8993T>G mutation and one deletion were identifi ed (65% detection rate). While the m.3243A>G mutation was closely associated with MELAS, the m.8344A>G was more heterogenous, being seen in one MERFF, two isolated mitochondrial myopathies and one Leigh syndrome patient. Screening for m.8993T>G in Leigh syndrome has a low yield as unsurprisingly Leigh syndrome has considerable genetic heterogeneity.