A case report of multiple system atrophy-mimics: Importance of comprehensive evaluation in suspected familial cases.

ABSTRACT:

Rationale

Multiple system atrophy (MSA) is primarily a sporadic neurodegenerative disorder, and a positive family history is considered against the diagnosis. While rare familial clusters are reported, they pose a significant diagnostic challenge. This report describes 2 cousins with phenotypically classic MSA who underwent genetic testing to investigate a potential shared etiology, leading to a diagnosis of a rare MSA mimic.

Patient concerns

Case 1: a 77-year-old male presented with Parkinsonism (bradykinesia, resting tremor) and neurogenic orthostatic hypotension. Case 2: a 55-year-old female, case 1's 1st cousin, presented with progressive limb ataxia, dysarthria, and neurogenic orthostatic hypotension. Both patients reported a poor therapeutic response to levodopa and a

SUBMITTER: Jeong C 

PROVIDER: S-EPMC12851762 | biostudies-literature | 2026 Jan

REPOSITORIES: biostudies-literature