X-linked Emery-Dreifuss muscular dystrophy manifesting with adult onset axial weakness, camptocormia, and minimal joint contractures.
Neuromuscul Disord
; 29(9): 678-683, 2019 09.
Article
en En
| MEDLINE
| ID: mdl-31474437
ABSTRACT
Emery-Dreifuss muscular dystrophy is an early-onset, slowly progressive myopathy characterized by the development of multiple contractures, muscle weakness and cardiac dysfunction. We present here the case of a 65-year-old male patient with a 20 year history of slowly progressive camptocormia, bradycardia and shortness of breath. Examination showed severe spine extensor and neck flexor muscle weakness with slight upper limb proximal weakness. Cardiologic assessment revealed slow atrial fibrillation. Whole body MRI demonstrated adipose substitution of the paravertebral, limb girdle and peroneal muscles as well as the tongue. Emerin immunohistochemistry on patient muscle biopsy revealed the absence of nuclear envelope labeling confirmed by Western Blot. Genetic analysis showed a hemizygous duplication of 5 bases in exon 6 of the EMD, emerin, gene on the X chromosome. This is an unusual presentation of X-linked Emery-Dreifuss muscular dystrophy with adult onset, predominant axial muscles involvement and minimal joint contractures. Diagnosis was prompted by the analysis of emerin on muscle biopsy.
Palabras clave
Texto completo:
1
Colección:
01-internacional
Asunto principal:
Proteínas Nucleares
/
Músculo Esquelético
/
Distrofia Muscular de Emery-Dreifuss
/
Proteínas de la Membrana
Límite:
Aged
/
Humans
/
Male
Idioma:
En
Revista:
Neuromuscul Disord
Asunto de la revista:
NEUROLOGIA
Año:
2019
Tipo del documento:
Article
País de afiliación:
Francia