A study of clinical and laboratory features of 14 Indian patients with dysferlinopathy

The aim of the study was to analyze the clinical and laboratory characteristics of Indian patients having dysferlinopathy.

Patients with limb girdle muscular dystrophy (LGMD) were prospectively studied. History, examination, and laboratory evaluation, including creatine kinase, electrophysiology, and muscle biopsy with immunocytochemistry, was carried out.

Fourteen patients (14.58% of patients with LGMD) had dysferlin deficiency. The mean age at onset was 19.9 years. Nine patients had distal presentation and in the remaining 5 patients, it was proximal. Asymmetry of muscle weakness was seen in 6 patients. Three patients experienced initial calf pains with transient hypertrophy. Gastrocnemius and tibialis anterior muscles were almost similarly affected. The brunt of proximal weakness was on iliopsoas, hip adductors, hamstrings, and quadriceps muscles. Upper limbs were mildly affected. Biceps lump was seen in 4 patients. The phenotype was mild and ambulation was maintained in all patients, many years into the illness.