Muscular Dystrophies

Muscular dystrophies comprise a group of over 2 dozen different genetic disorders which result in abnormal muscle strength and function. 

Accurate Diagnosis of the Specific Condition

The key to genetic understanding of any case of muscular dystrophy and the implications which attend that disorder is accurate diagnosis of the specific condition which affects the individual. This is often achieved by; 

• a combination of muscle biopsy evaluation and 

• a detailed, finely focused analysis of genes relevant to the condition. 

Confirming the diagnosis in an individual case can entail carefully co-ordinated work between the Clinical Geneticist, Pathologist and the Genetics Laboratory.

Expertise in Myotonic Dystrophy

One particular condition, Myotonic Dystrophy, is often overlooked as a possible diagnosis for progressive muscular weakness. This inherited condition is known to have widely varying clinical effects in different generations of affected families. Dr Reardon has particular experience of and expertise in this condition, having been involved in cloning the gene for the disorder while working in Cardiff in the 1990s. That research is now the basis of the diagnostic test for the condition offered in all genetic laboratories worldwide.