Advances in clinical and genetic characterization of minicore myopathy have revealed an expanded clinical spectrum, with a minority of affected children presenting in early infancy with severe muscle weakness. [medlink.com]

The condition has kept stable up to present [Fig 2 a-c]. DISCUSSION MmD usually presents as congenital myopathy2-7 rarely as adult-onset disease12. [scielo.br]

We describe a patient who presented as a floppy baby and remained weaker throughout his life than any other patients previously described. Biopsy findings were characteristic of multicore disease. [jamanetwork.com]

Spinal rigidity of varying severity is present. Diagnosis/testing. [ncbi.nlm.nih.gov]

The most common type of nemaline rod myopathy presents in the infantile stage with 42% of patients presenting in the neonatal period. [6] While there has been an association with polyhydramnios, decreased fetal movements, and an abnormal fetal presentation [emedicine.medscape.com]

• Weight Gain

  Hydrotherapy and physiotherapy were recommended and weight gain was discouraged. Prognathism was detected at age 12 and corrected by conservative orthodontic methods, remaining mild. [scielo.br]

• Mitral Valve Prolapse

  Mitral valve prolapse is occasionally seen. Other features. Most individuals have short stature and failure to thrive. Some individuals are slender and have a marfanoid habitus but no other features of Marfan syndrome. Course. [ncbi.nlm.nih.gov]

• Foot Deformity

  elongated facies, high arched palate, pectus carinatum, scoliosis, foot deformities). [ncbi.nlm.nih.gov]

• Chest Deformity

  High-arched palate and chest deformities are common. [ncbi.nlm.nih.gov]

• Cesarean Section

  A male child was born in September 1981 by cesarean section due to pelvic presentation. The parents were healthy and non consanguineous and denied neuromuscular disease in their families. [scielo.br]

• Gowers Sign

  Pelvic girdle deficit was evident by Gowers sign and a slightly clumsy gait. Muscle stretch reflexes were present. No facial muscle deficit, ophthalmoparesis or other neurological abnormal function were detected. [scielo.br]

• Morning Headache

  Monitoring of respiratory function should include the following: Close attention to nocturnal hypoventilation symptoms including early morning headaches, daytime drowsiness, loss of appetite, and deteriorating school performance Lung function tests (FEV1 [ncbi.nlm.nih.gov]

Aggressive treatment of lower respiratory infections is critical. [ncbi.nlm.nih.gov]

Is there a treatment? Currently there is no treatment for minicore myopathy although management of the condition is very important. [musculardystrophyuk.org]

Standard Therapies Treatment The treatment of central core disease (CCD) is directed toward the specific symptoms that are apparent in each individual. [rarediseases.org]

Nocturnal ventilation, when indicated, may significantly improve the prognosis. Assessment of cardiac status because of the risk of cardiac impairment secondary to respiratory involvement Growth should be assessed regularly. [ncbi.nlm.nih.gov]

Worse prognosis has also been associated with respiratory insufficiency due to weakness of diaphragm and accessory respiratory muscles and/or thoracic deformities6. [scielo.br]

Most cases are inherited as autosomal dominant trait and associated with nonprogressive muscle disease and a favorable prognosis. Some cases are inherited as autosomal recessive traits and are more likely to be associated with severe complications. [rarediseases.org]

A feeding tube prevents this from happening. There are a number of different types of feeding tube which are available, and these are fitted by a short surgical procedure. [musculardystrophyuk.org]

Prevention of secondary complications: Yearly influenza and other respiratory infection-related immunizations. [ncbi.nlm.nih.gov]

A disruption in calcium ion transport prevents muscles from contracting normally, leading to the muscle weakness characteristic of multiminicore disease. RYR1 gene mutations are also associated with an increased risk of malignant hyperthermia. [medlineplus.gov]

Any surgical procedure, including dental surgery, must be performed in a setting that is well monitored by anesthesiologists with necessary precautions to help prevent or appropriately manage a possible malignant hyperthermic event. [rarediseases.org]