680 - Muscle Weakness, A Late Presentation

Patient is a 50 M with PMHx HTN, GERD, first presented with weakness in his hamstrings in his 40’s, initially his right side and then left. Associated with frequent falls. Through his fifties, he developed less muscle mass in his proximal arms and weakness. P/E Musculoskeletal: Normal ROM. Decreased strength in BUE and LUE 2/5, normal reflexes No atrophy, no tremor and normal reflexes and muscle tone. Coordination and gait normal. Initial genetic study unremarkable. More specified testing  revealed FKRP sequencing alteration of indeterminate type. Patient was treated with physical therapy and therapeutic use of coenzyme q10, creatine monohydrate

Discussions: Patient with muscle weakness and an FKRP gene mutation, leading to a diagnosis of limb-girdle muscular dystrophy (LGMD), specifically LGMD2I. This myopathic condition affects the shoulder and pelvic muscles and is often difficult to diagnose due to its late onset in middle age. Genetic testing was crucial in identifying the FKRP mutation. Therapeutic interventions, including physical therapy and supplementation with coenzyme Q10 and creatine monohydrate, are aimed at improving muscle function and strength. Monitoring and genetic investigation are essential to refine the diagnosis and treatment strategies for this condition.

Conclusions: Diagnosing Limb-girdle muscular dystrophy (LGMD) in patients presenting with progressive proximal muscle weakness  especially when neurological symptoms are absent can be difficult. The late onset of symptoms, highlights the challenge of diagnosing LGMD in middle age, as the condition often presents with atypical features and may be misattributed to other causes or aging.
The identification of an FKRP gene alteration, although of indeterminate type, provides valuable insight into the underlying pathology and directs the therapeutic approach. The patient’s management with physical therapy ] aims to mitigate symptoms and improve quality of life.
Ongoing genetic research and clinical follow-up are essential to refine the diagnosis and optimize treatment strategies.