| CASE REPORT |
|
| Year : 2008 | Volume
: 56
| Issue : 3 | Page : 388--390 |
Twenty-two year follow-up of an Indian family with dysferlinopathy-clinical, immunocytochemical, western blotting and genetic features
Satish V Khadilkar1, Rakesh K Singh2, Pankaj Agarwal1, Martin Krahn3, Nicolas Levy3
1 Department of Neurology, Grant Medical College and Sir J J Group of Hospitals, Byculla, Mumbai, India
2 Department of Neurology, Wokhardt Hospitals, Mumbai, India
3 Département de Génétique Médicale, Hôpital d'Enfants de la Timone, AP-HM, and Inserm UMR910, Faculté de Médecine Timone, Université de la Méditerranée, Marseille, France
Correspondence Address:
Satish V Khadilkar
110, New Wing, First Floor, Bombay Hospital, 12 New Marine Lines, Mumbai-400 020
India
 Source of Support: None, Conflict of Interest: None  | Check |
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.
[FULL TEXT] [PDF]*
|
