Muscle MRI in a Rare Case of Limb-Girdle Muscular Dystrophy 1B

The term limb-girdle muscular dystrophy (LGMD) refers to a variety of genetic neuromuscular disorders that typically affect the proximal muscles surrounding the hip and shoulder girdles. Despite having multiple genetic subtypes, these share similar clinical and imaging findings. Autosomal dominant forms are grouped under type 1, and autosomal recessive forms are grouped under type 2. Limb-girdle muscle dystrophy 1B (LGMD1B) is an autosomal dominant form. It has a variable age of onset. It is caused by a mutation in the Lamin A/C gene. A 60-year-old male presented with a history of slowly progressive bilateral lower limb weakness. Laboratory tests revealed elevated levels of serum creatinine kinase. He underwent a magnetic resonance imaging (MRI) of bilateral hips and thigh regions. MRI revealed moderate to severe fatty infiltration of the muscles of the hip and thigh regions in a bilaterally symmetrical fashion. Further testing confirmed the diagnosis of LGMD1B.