Early onset as a marker for disease severity in facioscapulohumeral muscular dystrophy.
Adult
Age of Onset
Aged
Blindness
/ etiology
Cross-Sectional Studies
DNA Repeat Expansion
/ genetics
Epilepsy
/ etiology
Female
Hearing Loss
/ etiology
Homeodomain Proteins
/ genetics
Humans
Male
Middle Aged
Muscle Weakness
/ etiology
Muscular Dystrophy, Facioscapulohumeral
/ diagnosis
Prospective Studies
Severity of Illness Index
Journal
Neurology
ISSN: 1526-632X
Titre abrégé: Neurology
Pays: United States
ID NLM: 0401060
Informations de publication
Date de publication:
22 01 2019
22 01 2019
Historique:
received:
06
07
2018
accepted:
27
09
2018
pubmed:
21
12
2018
medline:
18
10
2019
entrez:
21
12
2018
Statut:
ppublish
Résumé
To assess the relation between age at onset and disease severity in facioscapulohumeral muscular dystrophy (FSHD). In this prospective cross-sectional study, we matched adult patients with FSHD with an early disease onset with 2 sex-matched FSHD control groups with a classic onset; the first group was age matched, and the second group was disease duration matched. Genetic characteristics, muscle performance, respiratory functioning, hearing loss, vision loss, epilepsy, educational level, and work status were compared with the 2 control groups. Twenty-eight patients with early-onset FSHD were age (n = 28) or duration (n = 27) matched with classic-onset patients. Patients with early-onset FSHD had more severe muscle weakness (mean FSHD clinical score 11 vs 5 in the age-matched and 9 in the duration-matched group, Patients with early-onset FSHD more often have severe muscle weakness and systemic features. The disease severity is greater than in patients with classic-onset FSHD who are matched for disease duration, suggesting that the progression is faster in early-onset patients.
Identifiants
pubmed: 30568007
pii: WNL.0000000000006819
doi: 10.1212/WNL.0000000000006819
pmc: PMC6345117
doi:
Substances chimiques
DUX4L1 protein, human
0
Homeodomain Proteins
0
Types de publication
Journal Article
Langues
eng
Sous-ensembles de citation
IM
Pagination
e378-e385Informations de copyright
© 2018 American Academy of Neurology.
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