Co-Existence of Polyneuropathy, Osteoporosis and Limb Girdle Muscular Dystrophy in a Patient with Ankylosing Spondylitis

Abstract

Limb-girdle muscular dystrophies (LGMD) are a heterogeneous group of autosomal recessive and dominant disorders characterized by progressive weakness of shoulder and pelvicgirdle muscles. Ankylosing spondylitis (AS) is a chronic, systemic, autoimmune and inflammatory rheumatic disease, which primarily affects the vertebral and sacroiliac joints of the body. Peripheral neuropathy is one of the most common complications of diabetes mellitus that micro inflammatory changes have also been proposed in the highly complex disease pathogenesis. Painful paresthesia in distal limbs and symptoms due to the involvement of autonomic nervous system are frequently seen in those patients. Osteoporosis is a skeletal disorder characterized with decreased bone mineral density and disruption in structural integrity of bones that increases the risk of fractures, significantly. Ageing has been defined as an important risk factor for osteoporosis; however, immobilization, inflammatory rheumatic disorders and various endocrine diseases might also precipitate osteoporosis by decreasing the load on the bones. We hereby report a case of a patient diagnosed with a genetic neuromuscular disease and multiple autoimmune diseases (namely, AS and DM) and discuss the possible pathogenesis in line with the literature. Case report. A 46-year-old man was admitted with the complaint of painful and swollen ankles, stiffness in neck and limb joints, and paresthesia in distal limbs. He was diagnosed with limb-girdle muscular dystrophy 20 years ago, with the symptoms of slowly progressive weakness in proximal limb muscles, which started during his early twenties, increased levels of serum creatinine kinase (CK), myopathic changes in electromyography and dystrophic changes in muscle biopsy. He was diagnosed with type 2 Diabetes Mellitus (T2DM) 10 years ago. His daughter was diagnosed with ankylosing spondylitis and was using non-steroid anti-inflammatory medications, besides regular physiotherapy. Ten years ago, he was operated due to right femur fracture after a fall and was unable to walk after a one-year period of postoperative immobilization. He was using a wheel chair and his functional activity level was 0. Examination revealed severe atrophy in shoulder and pelvic-girdle muscles. Cervical mobility was painful and restricted in all directions. Dorsal kyphosis was increased. There were flexion contractures in both hip joints and right knee. Bilateral sacroiliac joints were painful with palpation. Lumbar motility could not be evaluated. Right ankle was swollen and warm with arthralgia. Muscle strength was 2/5 in proximal and 3/5 in distal muscles in upper limbs, and 2/5 in both the lower limbs. He had distal symmetric hypoesthesia in stocking and glove distribution. He was severely dependent with Barthel index score as 25. Serum and urine biochemical tests were within normal limits except erythrocyte sedimentation rate (53 mm/h), serum C-reactive protein (1.97 U/dL), creatinin kinase (459 U/dL), and lactic dehydrogenase (601 U/dL). HLA-B 27 was positive. Sacroiliac joint magnetic resonance imaging (MRI) revealed bilateral ankylosis. There was edema in right ankle and epin formation in right calcaneus and syndesmosis in C3-4-5-6 cervical vertebral corpuses in direct X-ray graphy. Total Z-score in hip was - 2.6 in bone mineral density. Distal symmetrical sensory polyneuropathy was detected in electrodiagnostic studies. He was treated with indomethacine 75 mg/d, salazopyrin 2000 mg/d, pregabaline 150 mg/d and dalendronate 70 mg/w with cholecalciferol 2800 IU/w. He was enrolled in a personalized physiotherapy program. CRP level and sedimentation rate were decreased 3 months later. Total Z-score in hips was increased to - 1.6 one year later.