Naslov
Congenital myopathy with nemaline bodies: a case report

Autori
Boban, Marina ; Pažanin, Leo ; Canki-Klain, Nina ; Mitrović, Zoran

Izvornik
Neurologia Croatica. Supplement (1331-5196) 53 (2004), Suppl 3;

Vrsta, podvrsta i kategorija rada
Radovi u časopisima, kongresno priopcenje, znanstveni

Ključne riječi
nemaline; congenital myopathy; clinics

Sažetak
Nemaline myopathy (NM)is genetically heterogeneous, with both autosomal dominant and autosomal recessive forms now identified. It is an uncommon muscle disease with a wide spectrum of phenotypes, including a congenital form with neonatal onset and fatal outcome, a congenital form with slowly progressive or nonprogressive weakness, and a sporadic adult-onset form. It is characterised by weakness and eosinophilic, rodlike (nemaline) inclusions in muscle fibers. We describe a 43-year old female with positive family history of walking and speech difficulties in her mother, who died in her forties, and in her nephew. During early childhood she had speech and swallowing problems, frequent respiratory infections and walkinf difficulties. Neurologic examination revealed nasal speech, facial and neck weakness, waddling steppage gait, prominent lumbar lordosis, muscle atrophy of extremities, elongated face, high arched palate and pes cavi. Electromyography showed reduced myopathic pattern in her lower leg, foot muscles, arms, neck and facial muscles. Mild myopathy was found in the thigh and pelvic muscles, with reduced evoked muscle potentials and normal neural potentialns. ECG, ergonometry and heart ultrasound were borderline. CK levels, pulmonary tests and cranial CT scan were normal. Electron microscopy revealed inclusion bodies in few muscle fibers, which morphologically looked like "rod bodies or nemaline bodies". According to the findings of muscle biopsy and clinical picture we concluded that the likely diagnosis was congenital myopathy of nemaline body type with slow progression and autosomal dominant inheritance. It was confirmed by Professor M.Fardeau from the Institute of Myology, INSERM, Paris.

Izvorni jezik
Engleski

Znanstvena područja
Kliničke medicinske znanosti

POVEZANOST RADA