Clinical, Radiological, and Genetic Profiles of Eight Patients with Combined Dystonic Manifestation of Type-III GM1 Gangliosidosis: A Video Case Series from India.

ABSTRACT:

Background

Type-III (adult/chronic) GM1 gangliosidosis is an uncommon, late-onset lysosomal disorder that frequently presents as a complex movement disorder.

Methods

In this retrospective case series, clinical details, neuroimaging, electrophysiology, and genetics were extracted from standardized records and videos.

Results

Eight patients were identified with median age at symptom onset of 6 years (range 3-18), and age at presentation of 23 years (12-27). All exhibited generalized dystonia with early, conspicuous oro-mandibular-cranio-cervical involvement; dysarthria was universal, parkinsonism occurred in two, and corticospinal signs in six. Ocular motor abnormalities were frequent; kyphoscoliosis was common. Where performed, nerve conduction studies, electroencephal

SUBMITTER: Roy S 

PROVIDER: S-EPMC12904113 | biostudies-literature | 2026

REPOSITORIES: biostudies-literature