Limbgirdle muscular dystrophy type 2 a A case

Limb-girdle muscular dystrophy type 2 a A case report #24664 Baiba Vikmane 1, 2, Sintija Locāne 1, 2, Nataļja Predkele 1, 2, Jānis Mednieks 1, 2 Riga Stradins University, Faculty of Continuing education Pauls Stradins Clinical University Hospital, department of neurology, Riga, Latvia Work up Limb-girdle muscular dystrophy type 2 A (LGMD 2 A) is a subtype of autosomal recessive limb girdle muscular dystrophy characterized by a variable age of onset of progressive, typically symmetrical and selective weakness and atrophy of proximal shoulder- and pelvic-girdle muscles without cardiac or facial involvement. Case report We report a case of 31 -year-old man, presenting to Pauls Stradins Clinical University Hospital with main complaints of abdominal pain for last four months, with coexisting constipations, shortness of breath, heart palpitations and anxiety. Medical history The patient receives a multidisciplinar approach and complex examination to clarify the etiology of all complaints the patient has. Somatic findings: Abdominal examination, including FGS, colonoscopy, abdominal CT and MRI reveals no pathology. Chest CT shows S 9, S 10 segment pulmonary embolism. Respiratory tests show severe restrictive type respiratory insufficiency. Echo-kg shows no cardiomyopathy or other cardiac pathology. Holter monitoring shows no significant pathology. Patients medical history includes slowly progressing muscle weakness of unknown origin, that has started in early childhood and caused movement impairment at early age. He became bedridden at the age of 30 due to muscle weakness and painful contractures, last time he could stand with assistance was 4 months ago. The patient’s neurological status has never been examined in a hospital, definitive diagnosis has not been made. There are no neurological dieases in pateint’s family. Neurological findings: Head MRI reveals light diffuse cortical atrophy. Electromyography shows myopathic changes predominantly in proximal muscle groups. Muscle biopsy from proximal arm and leg muscles reveals myopathic changes. Lysosomal , glycoprotein storage and inflammatory myopathies are excluded. No COX or SDH deficiency is found Objective findings Further genetic testing reveals Limb-gridle muscular dystrophy (LGMD), type 2 a – a rare genetic disorder, that results in slowly progressing muscle weakness. At the time presenting patient’s vital signs are normal, blood pressure 120/70 mm. Hg, sinus tachycardia 100 x’ , Sp. O 2 100%. The lower left abdominal quadrant is painful, but there are no sign’s of surgical pathology. Neurological examination reveals muscle weakness affecting all extremities, predominantly proximal muscles – muscle strength in proximal arm and shoulder muscles 3/5 (in MRC scale), distal arm – 4/5, proximal leg muscles – 2/5, distal leg 3/5. Upper-arm and thigh muscles are hypotrophic. Tendon reflexes are symmetric. Severe contractures in knee and elbow joints are observed. The cranial innervation is intact and there is no sensory system involvement. The cognitive function is impaired by depression, otherwise the patient shows no signs of cognitive defect. Picture 1. The maximal extension possible in knee joints. In addition severe atrophy in thigh muscles is seen. The patient is not able to lift his legs without assistance. Most of patient’s presenting symptoms can be at least partially explained by LGMD: • abdominal symptoms as a result of narcotic analgetic usage for pain relief; • Pulmonary embolism and constipations as a result of immobility; • Depression with anxiety because of severe disability, that exacerbates pain; • Restrictive respiratory insufficiency is more common in other LGMD types (2 C, 2 D) but mild respiratory disfunction in late age can be seen in type 2 a. The immobility due to contractures could be the main reason, however additional somatic pathology – pulmonary trombembolism was present. Unfortunately, there is no pathogenetic treatment to LGMD, however combined physical and symptomatic treatment with analgetics, lactulose syrup, myorelaxants, selective serotonin reuptake inhibitors, antipsychotics and anticoagulants helped to reduce the symptoms.