Kennedy's disease.
Pract Neurol
; 24(4): 302-305, 2024 Jul 16.
Article
en En
| MEDLINE
| ID: mdl-38485225
ABSTRACT
A 57-year-old man developed worsening early morning headaches, muscle cramps and falls over 12 months. He had widespread fasciculation and was diagnosed with motor neurone disease, and treated with nocturnal hypoventilation. Based on this diagnosis, he made significant personal and financial decisions including retiring and selling his house. He subsequently developed a lump in his right breast and was found to have gynaecomastia. This triggered genetic testing for Kennedy's disease leading to the correct diagnosis. This case highlights an unusual presentation of a rare disease leading to misdiagnosis and major repercussions for the patient. Recent genetic analysis from the 100 000 genome project suggests Kennedy's disease may be four times more prevalent in the population than previously thought, highlighting the need to consider genetic testing, especially if there is a suggestion of multisystem disease.
Palabras clave
Texto completo:
1
Bases de datos:
MEDLINE
Asunto principal:
Atrofia Bulboespinal Ligada al X
Límite:
Humans
/
Male
/
Middle aged
Idioma:
En
Revista:
Pract Neurol
Año:
2024
Tipo del documento:
Article
País de afiliación:
Reino Unido