PubMed Health⌕ Search

Biomedical subjects

E G Murphy

Publications and source records attributed to E G Murphy.

At least 37 records · Page 2Linked to original sources
PubMed1988

Neurogenic arthrogryposis multiplex congenita: clinical and muscle biopsy findings.

Thirteen cases of arthrogryposis multiplex congenita without evidence of spinal muscular atrophy, congenital muscular dystrophy, or structural myopathy were reviewed. Family history, consanguinity, pregnancy, delivery, number and severity of contractures, and outcome were evaluated. Laboratory investigations had been performed and a biopsy of muscle from an affected limb had been examined histochemically and by electron microscopy. Five biopsies showed fiber type 1 predominance and three had type 2 predominance. Patterns of fiber-type predominance may have resulted from altered neural influence leading to impaired maturation of type 1 or 2 motor units. Nine patients had been followed up for 3-8 years. Two were still not walking at age 8 years. For the 6 who were walking, the mean age at ambulation was 4.7 years. There was no deterioration in power. Muscle biopsy is recommended in arthrogryposis multiplex congenita. Identification of a probable neurogenic arthrogryposis multiplex congenita is important because the condition is not progressive and is apparently not transmitted genetically.

Arthrogryposis↗
PubMed1988

Heterogeneity of nemaline myopathy. A follow-up study of 13 cases.

The marked heterogeneity of nemaline myopathy is again shown in the present series of 13 patients. Most children have a long-standing, mild, and slowly progressing proximal myopathy. Two brothers with extreme weakness died during the neonatal period of respiratory failure representing the X-linked variant. One adult with proximal weakness was also diagnosed as having nemaline myopathy. An unusual course was observed in 2 infants who initially had moderate weakness but subsequently developed severe generalized weakness including respiratory muscles. This led to irreversible respiratory failure requiring continuous ventilatory support for as long as 9 and 15 years, respectively. Although uncommon, the possibility of an imminent respiratory failure in initially weak infants should also be taken into account within the clinical spectrum of nemaline myopathy.

Adult↗
PubMed1987

Subsarcolemmal vermiform deposits in skeletal muscle, associated with familial cardiomyopathy: report of two cases of a new entity.

Distinctive subsarcolemmal acid phosphatase-positive crescents were found in many muscle fibers of triceps muscle biopsies from 2 siblings with cardiomyopathy. The crescents appeared as dense osmophilic material in irregular vermiform arrays on electron microscopy. However, both patients had clinically normal skeletal muscle function. These 2 cases are believed to represent a rare familial myopathy affecting cardiac and skeletal muscle.

Cardiomyopathies↗
PubMed1984

Fatal nemaline myopathy in infancy.

The clinical and neuropathological findings in two infants with congenital nemaline myopathy are described. One patient presented at birth with severe hypotonia, respiratory failure and contractures and died shortly after the neonatal period. The other presented at age two months with hypotonia and, following a period of clinical stability, died at age seven months from respiratory failure. Pathological findings in the fatal neonatal case revealed numerous rod bodies in lingual, pharyngeal, diaphragm and limb muscles, correlating with clinical findings. Significant, but less rod body involvement was found in the diaphragm and limb muscles of the second patient. Although a neural basis has been suggested for this disorder, no abnormalities were found in the central nervous system or in the peripheral nerves of these two severely affected patients.

Female↗
PubMed1983

Thin ribs on chest X-ray: a useful sign in the differential diagnosis of the floppy newborn.

The significance of thin ribs among 26 newborns diagnosed as having neuromuscular disease is discussed. 19 had a chest X-ray. Thin ribs were observed in three of seven with congenital myotonic dystrophy, in two of four with myotubular myopathy and in one of five with spinal muscular atrophy. The ribs were normal in one case of nemaline myopathy and two cases of non-specific myopathy. Polyhydramnios was recorded in four of the six cases with thin ribs. Ventilatory support frequently was required for these infants. The observation of thin ribs on X-ray is highly suggestive of neonatal neuromuscular disease, and is neither specific for nor invariable in congenital myotonic dystrophy.

Diagnosis, Differential↗
PubMed1982

Congenital muscular dystrophy: a clinicopathologic report of 24 cases.

Congenital muscular dystrophy (muscular dystrophy presenting from birth) with a wide spectrum of clinical severity is reported in 24 patients. Progression of symptoms was evident, leading to significant motor handicap in all patients and death in eight cases. Muscle enzyme studies did not always correlate with the severity of the disease. In six cases, initial muscle biopsy showed only minimal, nonspecific abnormalities; however, characteristic dystrophic changes were evident on repeat biopsies. Histochemical and electron microscopic studies did not show consistent changes, except type I predominance in a few cases. Evidently the condition is rarely, if ever, benign and the clinical course cannot be predicted from the initial presentation or early pathologic findings. Clinical, laboratory and pathologic characteristics are outlined for the diagnosis of this disorder.

Biopsy↗
PubMed1981

Clinical progression of giant-axonal neuropathy over a twelve year period.

Giant-axonal neuropathy (GAN), a chronic peripheral neuropathy with associated Central Nervous System dysfunction and tight curly hair, is described in a 17-year-old girl. Biopsies of this girl's muscle and nerve are characteristic of this condition. Her clinical course over a 12 year period characterizes a disease of a slowly progressive nature.

Axons↗
PubMed1978

A case of Schwartz-Jampel syndrome with unusual muscle biopsy findings.

A case of Schwartz-Jampel syndrome with electrical, radiographic, biopsy, and pharmacological studies is presented along with a summary of the 12 other reported cases. Radiological study showed nonspecific but definite abnormalities. The muscle biopsy revealed myopathic and neurogenic features. No drug was effective in reducing our patient's stiffness.

Biopsy↗
PubMed1975

Effect of chronic renal failure, dialysis and transplantation on motor nerve conduction velocity in children.

Ulnar and peroneal motor nerve conduction volocities (MNCVs) were measured in 47 children in a dialysis-transplantation program. Mean peroneal MNCV was significantly decreased from normal in children with mild renal failure (serum creatinine concentration, 1.5 to 2.9 mg/dl), whereas ulnar MNCV was significantly decreased only when the serum creatinine value was at least 9 mg/dl. Both ulnar and peroneal MNCVs remained unchanged during long-term hemodialysis or peritoneal dialysis; however, after individual dialyses ulnar MNCV increased. After renal transplantation ulnar MNCV returned to normal within a year and peroneal MNCV within 3 years. Before dialysis was required and during long-term dialysis most plasma magnesium values were elevated; ionized calcium activity was decreased in about 50% of determinations. After transplantation and the concentration of divalent cations rapidly returned to normal. These children differed from adults studied in that (a) there was no correlation between severity of renal failure and MNCV, (b) long-term dialysis did not improve MNCV and (c) peroneal velocities did not recover for 3 years after transplantation.

Adolescent↗
PubMed1973

Nerve conduction in childhood diabetes.

Sixty-nine diabetic children were studied with respect to the motor nerve conduction velocities, duration of illness and adequacy of control.As a group there was a trend for children with diabetes to have slower MNCV than non-diabetic children, and for the slowing to become progressive as the duration of their disease increased. Poorer quality of diabetes control was also associated with progressive slowing of conduction but the exact relationship is uncertain, since no patient who had diabetes for more than four years was well controlled.Theories of causation of peripheral neuropathy in diabetic patients are reviewed; metabolic changes, rather than other factors, are thought most likely in children.

Adolescent↗