Two patients with 'Dropped head syndrome' due to mutations in LMNA or SEPN1 genes

A D'Amico; G Haliloglu; P Richard; B Talim; S Maugenre; A Ferreiro; P Guicheney; I Menditto; S Benedetti; E Bertini; G Bonne; H Topaloglu

doi:10.1016/j.nmd.2005.03.006

Two patients with 'Dropped head syndrome' due to mutations in LMNA or SEPN1 genes

Neuromuscul Disord. 2005 Aug;15(8):521-4. doi: 10.1016/j.nmd.2005.03.006.

Authors

A D'Amico¹, G Haliloglu, P Richard, B Talim, S Maugenre, A Ferreiro, P Guicheney, I Menditto, S Benedetti, E Bertini, G Bonne, H Topaloglu

Affiliation

¹ Unit of Molecular Medicine, Department of Laboratory Medicine, Bambino Gesu' Children's Research Hospital, Rome, Italy.

PMID: 15961312
DOI: 10.1016/j.nmd.2005.03.006

Abstract

Dropped head syndrome is characterized by severe weakness of neck extensor muscles with sparing of the flexors. It is a prominent sign in several neuromuscular conditions, but it may also be an isolated feature with uncertain aetiology. We report two children in whom prominent weakness of neck extensor muscles is associated with mutations in lamin A/C (LMNA) and selenoprotein N1 (SEPN1) genes, respectively. This report expands the underlying causes of the dropped head syndrome which may be the presenting feature of a congenital muscular dystrophy.

Publication types

Case Reports
Research Support, Non-U.S. Gov't

MeSH terms

Arginine / genetics
Child
DNA Mutational Analysis / methods
Female
Glycine / genetics
Humans
Infant
Lamin Type A
Lamins / genetics*
Male
Muscle Proteins / genetics*
Muscle Weakness / genetics
Muscle Weakness / physiopathology
Muscular Dystrophies / genetics*
Muscular Dystrophies / physiopathology*
Mutation*
Neck Muscles / pathology
Neck Muscles / physiopathology
Selenoproteins
Syndrome

Substances

LMNA protein, human
Lamin Type A
Lamins
Muscle Proteins
SELENON protein, human
Selenoproteins
Arginine
Glycine