Assuntos
Anormalidades Múltiplas/diagnóstico , Agenesia do Corpo Caloso , Degeneração Macular/diagnóstico , Espasmos Infantis/diagnóstico , Anormalidades Múltiplas/genética , Pré-Escolar , Feminino , Ligação Genética , Humanos , Lactente , Degeneração Macular/genética , Espasmos Infantis/genética , Síndrome , Cromossomo XRESUMO
The authors describe a 16-year-old patient suffering from facial scapulohumeral myopathy. The given case is regarded as sporadic. The disease was characterized by an early debut and rapid progression of neuromuscular disorders. Marked myasthenia and muscular atrophy of the face, shoulders, thighs, as well as contractures in the knee joints, hands and feet were noted. By 15 years the patient demonstrated a noticeable progress of motor disorders: she was unable to stand up from the chair, experienced difficulties in walking along the ward, and had a waddle gait. The given symptom-complex corresponds with the infantile variety of facial scapulohumeral myodystrophy.
Assuntos
Músculos Faciais , Distrofias Musculares/diagnóstico , Ombro , Adolescente , Eletromiografia , Feminino , Humanos , Distrofias Musculares/genética , Exame Neurológico , SíndromeRESUMO
The paper concerns a family in which father and sibs (two brothers and a sister) suffered from rapid-progressing myodystrophy. Clinically, the disease was marked by a debut in the pubertal period (at 12 to 13 years), derangement of the muscles of the limb girdles, proximal parts of the legs and arms, and distal parts of the legs. The given case was also characterized by the impairment of the cervical and facial muscles as well as by associated neuromuscular lesions and neurosensory hypoacusis. The case described supports the clinical pleomorphism of the facial scapulohumeral form of Landouzy-Dejerine myopathy.
Assuntos
Surdez/complicações , Distrofias Musculares/complicações , Adolescente , Adulto , Braço , Criança , Surdez/congênito , Surdez/genética , Eletromiografia , Músculos Faciais , Feminino , Humanos , Perna (Membro) , Masculino , Distrofias Musculares/diagnóstico , Distrofias Musculares/genética , Linhagem , Escápula , Fatores de TempoRESUMO
The authors relate a unique observation of the familial form of proximal myodystrophy with early contractures and malignant course. The primary character of muscular injury was confirmed on electromyography. The data of electrocardiography and echocardiography attested to the presence in the patients of the signs of cardiomyopathy. Since the disease was diagnosed in 3 brothers, the X-coupled recessive type of its inheritance is assumed. An opinion is advanced that the described form is a clinical variety of Emery-Dreyfus myodystrophy.
Assuntos
Contratura/genética , Lordose/genética , Distrofias Musculares/genética , Adulto , Contratura/diagnóstico , Contratura/etiologia , Diagnóstico Diferencial , Humanos , Lordose/diagnóstico , Lordose/etiologia , Vértebras Lombares/anormalidades , Masculino , Distrofias Musculares/classificação , Distrofias Musculares/complicações , Distrofias Musculares/diagnóstico , LinhagemAssuntos
Doenças em Gêmeos/diagnóstico , Distrofias Musculares/genética , Adolescente , Adulto , Diagnóstico Diferencial , Doenças em Gêmeos/genética , Genes Recessivos , Ligação Genética/genética , Humanos , Masculino , Distrofias Musculares/classificação , Distrofias Musculares/diagnóstico , Cromossomo XRESUMO
The authors describe a familial case of Kennedy's spinal amyotrophy. In three brothers of the R. family, the disease was marked by the appearance in the 4th-5th decade of life of myasthenia in the proximal parts of the limbs and of bulbar symptoms, which will run a slow-progressive course. Since the young age all the patients manifested gynecomastia. Besides, later one of the brothers developed scirrhus of the left mammary gland. Clinically, Kennedy's spinal amyotrophy in the R. family manifested itself by asymmetric distribution of myotrophies (more pronounced in the left limbs), bilateral Dupuytren's contractures in the hands. Apart from the signs of injuries to motoneurons of the anterior horns, electromyography and electroneuromyography have shown the peripheral nerves to be involved into the pathological process.
Assuntos
Atrofia Muscular/genética , Cromossomo X , Fatores Etários , Contratura de Dupuytren/genética , Eletromiografia , Ligação Genética , Humanos , Masculino , Pessoa de Meia-Idade , Atrofia Muscular/fisiopatologia , Linhagem , SíndromeRESUMO
Cytogenetic and clinical examination of a patient (girl) with tandem translocation between chromosomes 13 and 15 was carried out. Translocation resulted in a partial loss of the genetic material between chromosomes 15 and 13. The problem on karyotype and phenotype relations with the loss of the respective chromosome regions is discussed.
