Calpainopathy (Leyden-Mobius Limb-Girdle Muscular Dystrophy Type 2A Phenotype) and Dysferlinopathy (Miyoshi Distal Myopathy Limb-Girdle Muscular Dystrophy Type 2B Phenotype) of Preadolescent Onset: Case Reports of Two Male Filipinos.

Limb-girdle muscle dystrophy (LGMD) is the fourth most common genetic cause of muscle weakness, with LGMD type 2A (LGMD2A) being one of the most common adult-onset muscular dystrophies presenting with limb-girdle weakness, while LGMD type 2B (LGMD2B) being the most common distal myopathy. This study includes two cases. The first case is a 13-year-old male, with no family history of similar symptoms, who presented with lower extremity weakness at the age of nine, starting with proximal weakness of the lower extremities, progressively involving the upper extremities. He had scapular winging and contracture of both Achilles tendons. The second case involves a 19-year-old male, with a distant family history of weakness, who presented with lower extremity weakness at the age of 10. He had distal myopathy, mainly as foot drop and atrophic gastrocnemii. In both cases, cardiac, intelligence, and bulbar function are spared. Electroneuromyography (ENMG) for both revealed myopathic process. Genetic testing results revealed calpain 3 (CAPN3) and dysferlin (DYSF) abnormality, confirming the diagnosis of LGMD2A and LGMD2B, respectively. This will be the first of its kind adequately documenting two of the most common LGMD subtype in our locale. Clinical phenomenology and preferential muscle involvement lead one to the gold standard genetic testing in heritable myopathies, which was well established in this report.

Demographic and Clinical Profile of Patients with Mild Cognitive Impairment Seen at St. Luke's Medical Center-Global City Memory Service.

INTRODUCTION: Mild cognitive impairment (MCI) is a dynamic state, which has evolved into a highly defined condition due to its association with dementia syndromes. There are no published data on the demographic and clinical characteristics of MCI in the Philippines. These data will help in defining the population at risk for the condition and in modifying the factors for its prevention. METHODS: From 2010 to 2019, 434 subjects were diagnosed with MCI based on the criteria published by the International Working Group on MCI last 2004. The demographic profile, vascular risk factors, and levels of Vitamin B12, Vitamin D, and homocysteine were reviewed. Results of neuropsychological tests, such as Alzheimer's Disease Assessment Scale-Cognitive Subscale (ADAS-Cog), Mini-Mental State Exam (MMSE), and Montreal Cognitive Assessment (MoCA), were collected. The Fazekas score of the cranial magnetic resonance imaging of patients was also considered. RESULTS: The median age was 72 years [34-97] with 58.3% females. The median years of education were 14 [4-28]. Median ADAS-Cog, MMSE, and MoCA scores were 11.3 [0-27.67], 27 [13-30], and 21 [7-30], respectively. Hypertension and dyslipidemia were present in 66.8% and 64.1%, respectively. Normal homocysteine, Vitamin B12, and Vitamin D levels were found in 64.2%, 59.8%, and 48.8%, respectively. The median Fazekas score was 1 (59.4%). CONCLUSION: This is the first study to document the demographic and clinical profile of Filipinos with MCI in a clinical setting. This review serves as a foundation for increased understanding of MCI with the ultimate goal of controlling the factors which may impact its prevention.

Ethnic variability in dementia: results from Singapore.

The diversity of Singapore's population affords a unique opportunity to study ethnic variability in the dementias. We sought to explore the effects of ethnicity on the frequency of Alzheimer disease and vascular dementia in a large Singaporean sample. A total of 357 patients were studied: 190 with vascular dementia and 167 with Alzheimer disease. Vascular dementia was more common among Chinese and Malays, whereas Alzheimer disease was more common in Indians and Eurasians. Factors that may contribute to the observed ethnic variability in dementia etiologies include differential frequency of the ApoE-e4 allele, frequency of vascular risk factors, lifestyle choices, and cultural attitudes toward health care utilization.