The investigation and management of XXXX .

@entity1 @entity2749 @entity66 @entity5442 @entity3986 @entity425 @entity5925 @entity281 @entity2421 @entity2473 @entity9847 @entity13192 @entity925 @entity121 @entity2383
@entity121 ( @entity121 ) are rare inherited primary @entity121 that are mainly due to abnormalities of muscle energy metabolism resulting in skeletal @entity121 . These diseases include @entity66 , glyco(geno) @entity121 and mitochondrial @entity2383 . Clinically these disorders present with a range of symptoms including infantile @entity2421 , @entity925 /exercise tolerance, chronic or acute @entity425 , cramps/ @entity2473 /stiffness or @entity2749 acute @entity5925 . The precipitant may be fasting, @entity281 , general anaesthesia, heat/cold or most commonly, exercise. However, the differential diagnosis includes a wide range of both acquired and inherited conditions and these include exposure to drugs/toxins, @entity5442 , @entity3986 and @entity13192 . Streamlining of existing diagnostic protocols has now become a realistic prospect given the availability of second-generation sequencing. A diagnostic pathway using a ' @entity5925 ' gene panel at an early stage of the diagnostic process is proposed. Following detailed clinical evaluation and first-line investigations, some @entity1 will be identified as candidates for @entity9847 / @entity9847 or MRC disease and these will be referred directly to the specialised services. However, for the majority of @entity1 , second-line investigation is best undertaken through next-generation sequencing using a ' @entity5925 ' gene panel. Following molecular analysis and careful evaluation of the findings, some @entity1 will receive a clear diagnosis. Further functional or specific targeted testing may be required in other @entity1 to evaluate the significance of uncertain/equivocal findings. For @entity1 with no clear diagnosis, further investigations will be required through a specialist centre.
