Diagnosis Of Nemaline Myopathy Research Articles

Rare abnormality of pyramidal tract and oligospermia as a presenting sign of nemaline myopathies: A case report

Nemaline myopathies constitute a significant portion of congenital or structural myopathies. It is characterized by typically non-progressive or slowly progressive generalized muscle weakness. However, abnormalities of the pyramidal tract are uncommon. To investigate the relevant clinical, pathological, and genetic characteristics, we gathered clinical data from a patient with nemaline myopathy with motor neuron disease and oligospermia, which were confirmed by muscle pathology examination and gene sequencing. This report describes a 35-year-old Chinese male who had been experiencing limb weakness, primarily in the lower limbs, since childhood. He occasionally stumbled while walking, faced difficulties climbing stairs and mountains, exhibited poorer walking and running abilities compared to his peers, and easily felt fatigued, though relieved after resting. Oligospermia was diagnosed in adulthood. He was initially diagnosed with motor neuron disease, most likely Kennedy disease. Nemaline myopathy was definitively diagnosed through muscle pathology examination and gene sequencing conducted at our institution. This case report underscores the importance of considering a diagnosis of nemaline myopathy in cases where pyramidal tract damage and oligospermia, though exceedingly rare, coexist.

Nemaline myopathy and non-fatal hypertrophic cardiomyopathy caused by a novel ACTA1 E239K mutation

A twenty-year old male presented with diffuse limb muscle weakness and exertional dyspnea since childhood. The diagnosis of nemaline myopathy was given based on the muscle pathology findings that revealed nemaline rods on light and electron microscopy and discovery of a novel mutation, E239K, in ACTA1. Incidentally, the patient had hypertrophic cardiomyopathy (HCM) as shown by echocardiography. In nemaline myopathy, a few cases of HCM have been reported, albeit rarely and always fatal, but only one patient had ACTA1 mutation. This present report describes an infantile onset of nemaline myopathy with a milder clinical course and non-fatal HCM as compared with previous cases, showing clinical diversity in skeletal and cardiac manifestations of conditions associated with ACTA1 mutations.

Feeding and speech difficulties in typical congenital Nemaline Myopathy

The present study is a retrospective case note review of children with a diagnosis of Nemaline Myopathy attending a tertiary neuromuscular centre. Nineteen patients with typical congenital Nemaline Myopathy are described in relation to their feeding and speech difficulties. Clinical data is presented on: genetic aetiology, severity and disease progression, survival, frequency of follow up, ambulation, faltering growth, frequency of respiratory infections, sleep hypoventilation, non-invasive ventilation (NIV), feeding difficulties, videofluoroscopy results, need for tube feeding (both naso-gastric tube and gastrostomy), gastro-oesophageal reflux and fundoplication. The clinical characteristics of the group include maintained ambulation, faltering growth, feeding difficulties, recurrent respiratory infections and respiratory failure. The majority of children required either gastrostomy or NIV or a combination of both. Faltering growth and gastrostomy preceded nocturnal hypoventilation and NIV in most cases....

Co‐existence of nemaline and cytoplasmic bodies in muscle of an infant with nemaline myopathy

A sporadic case of congenital myopathy had severe muscle weakness of neonatal onset. Nemaline and cytoplasmic bodies were detected in muscle biopsies taken at 4 months of age. These findings were consistent with a diagnosis of nemaline myopathy (severe neonatal form). The simultaneous and abundant presence of these two types of sarcoplasmic inclusion has been found in only a few cases. However, these cases suggest that the sarcoplasmic inclusions may be formed, at least partially, by common mechanisms.