Many affected infants have feeding difficulties and about 25-40% of infants with congenital NM die, often from respiratory failure. [genedx.com]

The CM clinical spectrum ranges from severe forms presenting with congenital hypotonia, delayed motor milestones, feeding difficulties, muscle weakness, facial muscle involvement, and ophtalmoplegia (including progressive scoliosis chronic respiratory [centrodinoferrari.com]

Management and treatment A multidisciplinary approach is needed to handle respiratory insufficiency (permanent or intermittent use of mechanical ventilation and treatment of lower respiratory tract infections) and feeding difficulties (feeding techniques [orpha.net]

The most common form of NM is the typical congenital form, which presents in infancy or early childhood with hypotonia, static or slowly progressive muscle weakness, and feeding difficulties. [invitae.com]

difficulties Uncommon - Between 30% and 50% cases Autosomal recessive inheritance Uncommon - Between 30% and 50% cases Accelerate your rare disease diagnosis with us Learn more Other less frequent symptoms Patients with Scoliosis and Arrhythmia. may [mendelian.co]

The muscle weakness slowly worsens over time and can lead to delayed development of motor skills, such as crawling or walking; muscle pain during exercise; and difficulty walking. [icdlist.com]

Examination of the index patient did not reveal respiratory abnormalities. Nerve conduction studies were normal in the three patients. [kundoc.com]

Failure to thrive necessitated nasogastric tube feeding at ten months followed by gastrostomy insertion at 13 months of age. CK levels as well as ECG were normal. [content.iospress.com]

Nemaline rods and complex I deficiency in three infants with hypotonia, motor delay and failure to thrive. [ncbi.nlm.nih.gov]

[…] and Sinusitis, related diseases and genetic alterations Hypertension and Neurological speech impairment, related diseases and genetic alterations [mendelian.co]

[…] invasive ventilation; HV, central hypoventilation; RH#, mild restricted right cardiac function; VI, mild valve insufficiencies; LV", minor left ventricular hypertrophy; AD, borderline aortic dilatation; EF#, reduction of ejection fraction; AH, arterial hypertension [kundoc.com]

She was otherwise known for obesity, hypertension and past history of seizures. [ojrd.biomedcentral.com]

The main clinical manifestations include weakness (usually most severe in the face, the neck flexors and the proximal limb muscles), hypotonia and depressed or absent deep tendon reflexes. [orpha.net]

Muscle hypotonia since birth was present in all cases. The other clinical findings reported were skeletal or facial dysmorphisms, breastfeeding difficulties and respiratory failure ( Table ). [scielo.br]

The most common presenting symptoms are hypotonia and muscle weakness. [invitae.com]

[…] in those with RYR1 mutations Core–rod myopathy AD/AR AR AD α-Actin 1 ( ACTA1 ) Nebulin ( NEB ) Kelch repeat and BTB/ ( KBTBD13 ) Onset in infancy or childhood. [neurology.mhmedical.com]

Clinical features of cap myopathy are onset in infancy or childhood, mainly proximal and axial muscle weakness, a long myopathic face with high arched palate, skeletal deformities, such as scoliosis, and respiratory problems. [kundoc.com]

Based upon the subtype, the degree of limb weakness does not always correlate to the severity of respiratory weakness. [emedicine.medscape.com]

At the age of 45 years, she presented with a waddling gait and a mild proximal and distal lower limb weakness, resulting in problems to run and difficulties to climb the stairs. She walked unassisted without distance limitation. [kundoc.com]

sign Easy fatigability Toe walking Neurological speech impairment Dilatation Waddling gait Type 1 muscle fiber predominance Generalized muscle weakness Abnormality of the cardiovascular system Progressive muscle weakness Scapular winging EMG: myopathic [mendelian.co]

He did not show a Gowers’ sign. Symmetrical weakness was present in neck flexors (4/5), 119 deltoid muscles (4/5), scapulo-humeral muscles, resulting in scapular winging (Fig. 1E), and in feet extensors (4/5). [kundoc.com]

Diagnosis is made based upon clinical signs such as muscle weakness, absent or low deep tendon reflexes (hyporeflexia), and a high-arched palate, along with electron-dense aggregates, called nemaline rods, being observed at the microscopic level within [en.wikipedia.org]