Khadilkar Satish V, Singh Rakesh K, Agarwal Pankaj, Krahn Martin, Levy Nicolas
Department of Neurology, Grant Medical College and Sir J J Group of Hospitals, Byculla, Mumbai, India.
Neurol India. 2008 Jul-Sep;56(3):388-90. doi: 10.4103/0028-3886.43459.
Long-term observations over a period of 22 years in an Indian family with primary dysferlinopathy are recorded, defining phenotypic variability. In the propositus, the dystrophy began distally in the tibialis anterior muscles, before involving the gastrocnemius. Transient painful calf hypertrophy, followed by calf wasting was observed. The proximal lower and upper limbs weakened after three to four years. The younger sibling presented with the proximo-distal phenotype. Both patients showed very high creatine kinase values early into the illness. Disease progression was slow. The younger sibling lost ambulation 14 years after onset, while the elder one remains ambulatory 22 years into the illness. Muscle biopsy showed dystrophic features and absence of dysferlin. Monocyte western blotting confirmed absence of dysferlin. Genetic analysis detected a heterozygous mutation in Exon 54 [c.6124C>T] in the DYSF gene. This is the first family with a diagnosis of dysferlinopathy supported by genetic data, reported from India.
记录了一个患有原发性dysferlin病的印度家庭长达22年的长期观察情况，明确了表型变异性。在先证者中，营养不良始于胫前肌远端，之后累及腓肠肌。观察到小腿短暂疼痛性肥大，随后出现小腿萎缩。三到四年后，近端下肢和上肢出现无力。弟弟表现为近端到远端的表型。两名患者在疾病早期肌酸激酶值都非常高。疾病进展缓慢。弟弟在发病14年后失去行走能力，而哥哥在患病22年后仍能行走。肌肉活检显示营养不良特征且无dysferlin。单核细胞western印迹法证实无dysferlin。基因分析在DYSF基因的第54外显子中检测到一个杂合突变[c.6124C>T]。这是印度报道的首个有基因数据支持诊断为dysferlin病的家庭。
