Non-neural phenotype of spinal and bulbar muscular atrophy: results from a large cohort of Italian patients.

ABSTRACT:

Objective

To carry out a deep characterisation of the main androgen-responsive tissues involved in spinal and bulbar muscular atrophy (SBMA).

Methods

73 consecutive Italian patients underwent a full clinical protocol including biochemical and hormonal analyses, genitourinary examination, bone metabolism and densitometry, cardiological evaluation and muscle pathology.

Results

Creatine kinase levels were slightly to markedly elevated in almost all cases (68 of the 73; 94%). 30 (41%) patients had fasting glucose above the reference limit, and many patients had total cholesterol (40; 54.7%), low-density lipoproteins cholesterol (29; 39.7%) and triglyceride (35; 48%) levels above the recommended values. Although testosterone, luteinising hormone and follicle-stimulating ho

SUBMITTER: Querin G 

PROVIDER: S-EPMC4975824 | biostudies-literature | 2016 Aug

REPOSITORIES: biostudies-literature