Hyaline Body Myopathy: Adulthood Manifestations
نویسندگان
چکیده
منابع مشابه
Hyaline body myopathy: adulthood manifestations.
BACKGROUND Hyaline body myopathy (HBM) is a rare chronic nonprogressive congenital myopathy, with variable patterns of inheritance. METHODS We describe a patient with congenital HBM with progression of weakness and increasing muscle pain in adulthood. Three muscle biopsies, done at various times in her life, are reported. RESULTS Symptoms started during childhood; however, as an adult, foll...
متن کاملHyaline fibromatosis syndrome: cutaneous manifestations.
Hyaline fibromatosis syndrome is the current name for clinical manifestations of diseases previously known as "infantile systemic hyalinosis" and "juvenile hyaline fibromatosis". The authors report representative clinical cases of each one of the above subtypes with emphasis on cutaneous manifestations and difficulties for early diagnosis in this syndrome, essentially of multidisciplinary appro...
متن کاملFingerprint body myopathy
Key points • Fingerprint body is a rare congenital myopathy. • Only 5 cases of fingerprint myopathy have been described to date. • Fingerprint myopathy is defined by subsarcolemmal inclusions on muscle biopsy; the inclusions have a characteristic lamellar pattern on electron microscopy. • The genetic basis of fingerprint myopathy is not yet known. • An increasing number of protein aggregate myo...
متن کاملHereditary Inclusion Body Myopathy (HIBM2)
Hereditary inclusion body myopathy type 2 (HIBM2) is a myopathy characterized by progressive muscle weakness with early adult onset. The disease is the result of a recessive mutation in the Glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase gene (GNE), which results in reduced enzyme function and sialic acid levels. A majority of individuals with HIBM2 are from Iranian-Jewish or ...
متن کاملCytoplasmic body myopathy with hypertrophic cardiomyopathy.
A patient with cytoplasmic body myopathy presented muscle hypotonia from birth and developed progressive muscular atrophy and weakness, scoliosis, contracture of joints and cardiorespiratory failure. At the age of 17, he died of heart failure. Post mortem examination revealed severe hypertrophy of cardiac walls and generalized muscular atrophy. Microscopic examination showed many cytoplasmic bo...
متن کاملذخیره در منابع من
با ذخیره ی این منبع در منابع من، دسترسی به آن را برای استفاده های بعدی آسان تر کنید
ژورنال
عنوان ژورنال: Canadian Journal of Neurological Sciences / Journal Canadien des Sciences Neurologiques
سال: 2005
ISSN: 0317-1671,2057-0155
DOI: 10.1017/s0317167100004078