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 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]

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]

All were male and presented in early childhood (first decade of life) with generalized hypotonia and muscle weakness. All of them had dysmorphic facies and three had high arched palate. [neurologyindia.com]

• Hunting

  Authors Version 2 / Date published: August 2004/ Original author: MDC Research Department, in association with Dr Ros Quinlivan, Consultant Paediatrician, Robert Jones & Agnes Hunt Hospital, Oswestry / Updated: April 2008 / Date of review: November 2011 [musculardystrophyuk.org]

• Abnormal Eye Movement

  The ophthalmoplegic form of multiminicore disease is characterized by paralysis of the eye muscles (external ophthalmoplegia). This can lead to abnormal eye movements and droopy eyelids (ptosis). [medlineplus.gov]

• Chest Deformity

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

• Hand Muscle Weakness

  None of our patient had ptosis, bulbar weakness or hand muscle weakness. [neurologyindia.com]

• Cesarean Section

  section for breech presentation. [neurologyindia.com]

  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]

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

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

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]

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]

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