Cases reported "Myopathies, Nemaline"

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1/65. Cardiac manifestations of congenital fiber-type disproportion myopathy.

    Cardiac involvement has not been a reported feature of congenital fiber-type disproportion myopathy. We describe two children, aged 13 years and 1 year, respectively, who presented with serious cardiac symptomatology in conjunction with congenital fiber-type disproportion. One child developed dilated cardiomyopathy and medically intractable congestive heart failure necessitating cardiac transplantation at the age of 13 years. The second (unrelated) child developed atrial fibrillation with rapid atrioventricular conduction requiring treatment with digoxin. Skeletal muscle biopsy findings in both children showed congenital fiber-type disproportion with no evidence of a structural, dystrophic, or metabolic myopathy. adenosine triphosphatase (ATPase) reacted sections showed type I hypotrophy with a predominance of type I fibers, confirmed by histogram analysis. Examination of the heart from patient 1 at the time of transplantation confirmed dilated cardiomyopathy with hypertrophic myocardiocytes. Although cardiomyopathy is commonly associated with other childhood myopathies, to our knowledge it has not been a feature in reported cases of congenital fiber-type disproportion. We recommend close cardiac assessment, with annual electrocardiograms, of children with congenital fiber-type disproportion. ( info)

2/65. Uniparental isodisomy resulting from 46,XX,i(1p),i(1q) in a woman with short stature, ptosis, micro/retrognathia, myopathy, deafness, and sterility.

    We report on a 43-year-old woman who was referred for evaluation because of minor facial anomalies, myopathy, sterility, short stature, hearing loss, downward slant of palpebral fissures, bilateral ptosis, severe micro/retrognathia, high arched palate, and scoliosis. Cytogenetic analyses utilizing GTG/CBG bandings showed presence of one i(1p) and one i(1q) without normal chromosome 1 homologues. fluorescence in situ hybridization analysis showed hybridization to only two chromosomes, consistent with the G-banded interpretation of i(1p) and i(1q). To the best of our knowledge, this is the first case of isochromosomes 1p and 1q replacing the two normal chromosome 1s. Molecular investigations using markers for chromosome 1 showed inheritance of only one set of paternal alleles and absence of any maternal alleles in the patient. The adverse phenotype of the patient may be due to one or more recessive mutations, genomic imprinting, or a combination of both. ( info)

3/65. Nemaline myopathy and cardiomyopathy.

    A case report is presented in which a 4-year-old male is diagnosed with hypertrophic cardiomyopathy, respiratory distress, muscle hypotonia, and psychomotor retardation. Electron microscopic study of skeletal muscle biopsy revealed pathologic changes typical of congenital nemaline myopathy, and biochemical analysis revealed a disorder of mitochondrial fatty acid oxidation. Therefore a previously undescribed combination of a structural and metabolic myopathy is reported. ( info)

4/65. Adult-onset nemaline myopathy: Another cause of dropped head.

    A 59-year-old man with severe neck extensor weakness had findings diagnostic of nemaline myopathy on muscle biopsy. review of the literature shows that dropped head occurs in nearly half of the patients with adult-onset nemaline myopathy. Other leading causes of dropped head syndrome are amyotrophic lateral sclerosis, myasthenia gravis, and isolated neck extensor myopathy. ( info)

5/65. Homozygosity for a nonsense mutation in the alpha-tropomyosin slow gene TPM3 in a patient with severe infantile nemaline myopathy.

    The nemaline myopathies are muscle disorders of variable severity and age of onset, with characteristic nemaline bodies in the sarcoplasm. genes for dominant (NEM1) and recessive (NEM2A) nemaline myopathy have been localised to chromosomes one and two, respectively. A missense mutation in the alpha-tropomyosin gene (TPM3) has been associated with NEM1 in one family. Probands from 76 other nemaline myopathy families have now been screened for TPM3 mutations. One proband, who was not noted to have any weakness neonatally, but who died at 21 months of age, was shown to be homozygous for a single strand conformation polymorphism (SSCP) in skeletal-muscle-specific exon 1 of TPM3. Sequencing revealed homozygosity for a nonsense mutation at codon 31 (CAG to TAG). The patient should have no functioning alpha-tropomyosin slow protein. The nemaline bodies in this patient were exclusively in type one fibres, consistent with the expression of TPM3 only in type one fibres. ( info)

6/65. Adult-onset nemaline myopathy and monoclonal gammopathy: a case report.

    A 47-year-old female developed proximal limb weakness after hysterectomy for uterine fibromatosis. muscle strength slowly improved, but relapse occurred at age 52. She presented with progressive gait difficulty, proximal limb weakness, and painful calves. family history was not contributory. cranial nerves, deep tendon reflexes, and sensation were normal. serum creatine kinase was normal. An IgG kappa monoclonal protein was found. Nerve conduction studies were normal, but EMG showed brief small polyphasic motor unit action potentials with early recruitment in proximal muscles. Muscle biopsy showed abundant rods, atrophic muscle fibres, and type 1 fibre predominance. The sarcolemma was immunoreactive for IgG kappa. plasmapheresis was unsuccessful, but methylprednisolone and azathioprine led to moderate improvement of muscle strength, associated with reduced monoclonal protein levels. This is the third case report, describing the association of monoclonal gammopathy and late-onset nemaline myopathy. Presence of a monoclonal protein at the sarcolemma and responsiveness to immunosuppressive treatment are suggestive of a dys-immune origin. ( info)

7/65. Spinal anesthesia for gastrostomy in an infant with nemaline myopathy.

    Implications: We report a case of spinal anesthesia in an infant with nemaline myopathy. Spinal anesthesia was administered to preempt the potential problems of difficult tracheal intubation and prolonged mechanical ventilation secondary to muscle weakness after the use of IV anesthetics in this patient. ( info)

8/65. Mild phenotype of nemaline myopathy with sleep hypoventilation due to a mutation in the skeletal muscle alpha-actin (ACTA1) gene.

    Nemaline myopathy is a clinically and genetically heterogeneous condition. The clinical spectrum ranges from severe cases with antenatal or neonatal onset and early death to late onset cases with only slow progression. Three genes are known to cause nemaline myopathy: the genes for nebulin (NEB) on chromosome 2q22, slow alpha-tropomyosin (TPM3) on chromosome 1q21 and skeletal muscle alpha-actin (ACTA1) on chromosome 1q42. We present a 39-year-old lady with a mild form of nemaline myopathy, whom we have followed over a period of 25 years. She presented at the age of 7 years with symptoms of mild axial and proximal muscle weakness. The overall course was essentially static, but at 36 years, she went into life-threatening respiratory failure, for which she is currently treated with night-time ventilation. Muscle biopsies at 12, 17 and 39 years of age showed typical nemaline rods, particularly in type 1 fibres. Areas with unevenness of oxidative stain were present in the second and third biopsies. The presence of rods and core-like areas was confirmed on electron microscopy. There was no detectable alteration in actin expression immunocytochemically. A dominant missense mutation in the skeletal muscle alpha-actin gene (ACTA1) was found. This case illustrates the clinical and genetic heterogeneity of nemaline myopathy, and one phenotype of the wide spectrum of severity caused by mutations in the skeletal muscle alpha-actin (ACTA1) gene. In addition, it shows the diversity of pathological features that can occur in congenital myopathies due to mutations in the same gene. ( info)

9/65. Nemaline cardiomyopathy in a young adult: an ultraimmunohistochemical study and review of the literature.

    heart transplantation was performed in a 26-year-old man who suffered from severe dilatative cardiomyopathy. A nemaline myopathy characterized by the accumulation of Z-line material and the formation of rod-like structures had been diagnosed in the skeletal muscle. Routine light microscopy of the heart disclosed only nonspecific findings. On electron microscopy scattered cardiomyocytes showed formations of rod-like structures and a structural desintegration of contractile filaments near the intercalated disks. Immunocytochemistry at the light and electron microscopical level exhibited an accumulation of alpha-actinin, desmin, and occasionally vinculin in abnormal cardiomyocytes. The rods were specifically stained with alpha-actinin and were less immunoreactive for desmin. No mutations were revealed in the skeletal muscle alpha-actin gene. The results illustrate a complex derangement of the cytoskeletal apparatus in nemaline cardiomyopathy. Nemaline cardiomyopathy may be difficult to diagnose in routine diagnostic procedures. A close correlation between the severity of cardiac dysfunction and the morphological expression of the disease in the heart may not be found. Nemaline cardiomyopathy should be included in the differential diagnosis of dilatative cardiomyopathy and may be diagnosed with certainty by ultrastructural-immunhistochemical investigations. ( info)

10/65. Congenital nemaline myopathy due to ACTA1-gene mutation and carnitine insufficiency: a case report.

    A premature boy with a congenital form of nemaline myopathy due to mutation in the ACTA1-gene showed decreased carnitine levels in the eighth week of life. After sufficient oral carnitine substitution he improved gradually. In the first 15 months of life he made good progress; he reached full head control, learned to sit unsupported and was able to raise objects. At that time the carnitine levels were normal without substitution. Nemaline myopathy is clinically and genetically heterogenous. The pathogenesis of the muscle weakness is poorly understood. Disturbances of carnitine metabolism in this group of patients as one possibility are conceivable. Further investigations of carnitine metabolism in patients with nemaline myopathy may shed light on the pathogenesis of this entity. ( info)
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