MRI and Muscle Involvement in Patients With Mutations in GMPPB

Rigshospitalet

Status: Completed

Conditions: Limb-girdle Muscular Dystrophy

Study type: Observational

Funder types: Other

Identifiers

NCT02635321

STO-GMPPB

Details and patient eligibility

About

Limb girdle muscular dystrophies (LGMD) are a very heterogeneous group of muscle disorders characterized by muscle weakness and atrophy of the proximal muscles of the shoulder and pelvic girdles. LGMD is classified based on its inheritance pattern and genetic cause into more than 31 different types.

A new type - type 2T has been found. The genetic cause of type 2T is mutations in Guanosine Diphosphate (GDP)-mannose pyrophosphorylase B (GMPPB). Mutations in GMPPB can also cause Congenital muscular dystrophies (CMD). Only 41 patients with mutations in GMPPB has been reported.

In this study, the investigators examine five new cases with the LGMD phenotype. The primary aim is to examine the muscle involvement using MRI.

Enrollment: 4 patients

Sex: All

Ages: 18+ years old

Volunteers: No Healthy Volunteers

Inclusion criteria

• Persons with genetically verified mutations in GMPPB

Exclusion criteria

• All contraindications for undergoing an MRI scan

Trial design

4 participants in 1 patient group

Patients with LGMD 2T

Description:

Four patients over 18 years old with genetically verified LGMD 2T.