OBJECTIVES: An exploratory investigation of diagnosis and management in progressive @entity2055 : rare @entity16 usually affecting balance, mobility and speech. METHODS: A longitudinal qualitative study into the experiences of @entity1 with @entity2055 and neurologists. Thematic analysis and follow-up interviews were used to determine diagnosis and management issues over time. RESULTS: @entity1 with @entity2055 recruited via two hospital departments and Ataxia UK were interviewed at baseline (n = 38) and 12-month follow-up (n = 31). Eight consultant neurologists were interviewed once. @entity1 accounts were diverse, but many expressed frustration at having an incurable condition and dissatisfaction with service outcomes. At follow-up, there was variation in their contact and satisfaction with helping agencies. Service issues regarding continuity of care and the primary/secondary care interface were evident. Neurologists' accounts also varied. One-half reported that there is nothing that can be done, and one-half favoured specialist referral to increase the likelihood of finding an underlying aetiology within budget constraints. CONCLUSIONS: Diagnostic uncertainties existing at baseline remained for @entity1 at follow-up interviews, although some had learned to deal with the uncertainties brought by the diagnosis of a largely untreatable condition. Care pathways only seemed to operate in the case of defined conditions, such as @entity7960 , the most commonly inherited cause. The findings point to a need to develop the evidence base to inform the relative utility of diagnostic procedures in the context of finite resources for @entity1 care and support.

Trouble with XXXX : A longitudinal qualitative study of the diagnosis and medical management of a group of rare, progressive @entity16 .

@entity1 :: ('9606', 'Species') :: ['patients', 'patient', 'Patient', 'people', 'People'] @entity16 :: ('MESH:D009422', 'Disease') :: ['neurological conditions'] @entity7960 :: ('MESH:D005621', 'Disease') :: ["Friedreich's Ataxia"] @entity2055 :: ('MESH:D001259', 'Disease') :: ['ataxia', 'ataxias']
@entity2055 :: (MESH:D001259,Disease) :: ['ataxia']
