Biomedical and social aspects of spondyloepiphyseal dysplasia tarda cases from bengkulu district of indonesia

Abstract

Background: Although short stature male (SSM) cases are often found in South Bengkulu, no management reports about their existence are available. This paper summarizes the researches of biomedical and social aspects for the human genetic disorders.

Case presentation: Field survey results indicated that SSM community was located in Kedurang area, and 67 persons with SSM were successfully sampled from a population of 17,357 persons (one of 260). Anthropometric comparative studies, history of the pattern of X-linked inheritance, as well as the study of anatomy through radiology and ultrasound confirmed that SSM is spondyloepiphyseal dysplasia tarda (SEDT). Genomic studies through characterisation of mutations of the SEDL gene revealed that point mutations on SEDT Kedurang are different from the results of previous similar studies, and these people are predicted to come from the same ancestors. It is necessary to notice that persons with SEDT have normal intellectual ability, but the physical conditions make their socio-economic competitiveness very low. Furthermore premature joint pains make persons with SEDT become old faster than the ordinary people by the age of 40 years. Realizing that they are marginalized, some of them try to come together to establish a foundation designed to make a better life.

Conclusion: It can be concluded that the appropriate management of SEDT should be done by integrating to improve their nutritional status, reduce the suffering of joint pain, develop labelled molecular markers for early detection, and increase their socio-economic competitiveness.

Keywords: SEDL gene; X-linked inheritance; male short stature; mutation; spondyloepiphyseal.

Figure 1

Physical profile of short statures male (SSM, right) are often found in South Bengkulu, Indonesia, couled with the normal male (left).

Figure 2

Although two of the eight SEDT families, Tanjung Alam (A) and Palak Siring (B) families, indicate the same pattern of inheritance at the closed area in Kedurang, but there is not yet enough kinship to combine the families. Individuals are represented as males (squares), females (circles), unaffected (open symbol), affected (filled in symbol) and obligate carrier (dot in middle of symbol). All other females are shown as unaffected (open circle).

Figure 3

The size of ventral (V) part of lumber vertebrae on affected SEDT are significantly more thin compared to the dorsal (D) part which is possible related with early hunch-backed performance in some affected SEDT (right). This reality is very different compared to normal conditions (left). A=superior, P=inferior.

Figure 4

An awareness of the marginalized people, some of them tried to come together in YAB for designing a better life. Several advisors and board of the foundation after their coordinative meeting in Bengkulu.