Family with Ehlers-Danlos syndrome (combined classic and vascular type) with rare presentation of progressive myopathy and unusual association of severe facial and trigeminal motor weakness.

We report the clinical, radiological, biochemical, muscle histology, and electron microscopic features of two members of a family with combined Ehlers-Danlos syndrome (EDS) [classic and vascular type] and progressive myopathy as the primary manifestation. A 35-year old lady presented with severe gluteal and thigh muscle pain and easy fatigability for 5 years. She developed weakness and wasting of pelvic and pectoral girdles and thighs for 3 years and severe neck flexor and truncal weakness for 6 months. She had a history of recurrent jaw dislocation, easy bruising with hyperpigmentation, hyperextensibility of joints, translucent skin, and papyraceous scars. She had high myopia with astigmatism. She had wasting of temporalis, masseters, sternocleidomastoids and trapezius. There was moderate weakness of temporalis, masseters, and facial muscles. Muscle power was Medical Research Council (MRC) grade 4 at shoulders and arms, and grade 3+ at pelvis and thighs. Serum homocysteine level was normal, and creatine kinase (CK) was 275 IU. Two dimensional echocardiogram (2D Echo) showed myxomatous degeneration of mitral valves. Electromyography (EMG) was suggestive of a myopathic pattern. Muscle magnetic resonance imaging (MR) revealed severe fatty infiltration of paraspinal muscles, gluteus maximus and medius, quadriceps, hamstrings, and gastrocnemius. Electron microscopy showed an occasional distorted fibril with mild increase in oxytalan fibers and variation in thickness of blood vessel basement membrane. Her 15-year old daughter had exertion-induced myalgias, right hemifacial hypoplasia, myopia, hyperextensible joints, hyperelastic skin, and neck muscle weakness. However, her CK and 2D Echo were normal. This report presents the rare combination of classic and vascular type of EDS primarily presenting as muscle weakness and associated with facial and trigeminal motor weakness.