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]

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]

• Short Stature

  stature (1994) J Child Neurol, 9, pp. 275-277., Abstractpt_BR dc.description.referenceKumano, K., Congenital non-progressive myopathy, associated with scoliosis. [repositorio.unicamp.br]

  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]

• Asymptomatic

  Asymptomatic hyper-CK-emia: an electrophysiologic and histopathologic study. Muscle Nerve1989;12:206–9. ↵ Ferreiro A, Quijano-Roy S, Pichereau C, et al. [jnnp.bmj.com]

  Heterozygotes (carriers) are asymptomatic. Sibs of a proband At conception, each sib of an affected individual has a 25% chance of being affected, a 50% chance of being an asymptomatic carrier, and a 25% chance of being unaffected and not a carrier. [ncbi.nlm.nih.gov]

• Anemia

  MUSCOLARE RN1490 SINDROME DI ISAACS MIOCLONO BALTICO RF0060 EPILESSIA MIOCLONICA PROGRESSIVA MIOCLONO ESSENZIALE EREDITARIO RF0070 MIOCLONO ESSENZIALE EREDITARIO MIODISPLASIA RNG020 SINDROMI CON ARTROGRIPOSI MULTIPLE CONGENITE MIOPATIA - ACIDOSI LATTICA - ANEMIA [malattierare.regione.veneto.it]

  Myopathy, Autosomal Dominant Centronuclear Myopathy AR 100 20 of 20 C12ORF65 Combined Oxidative Phosphorylation Deficiency, Autosomal Recessive Spastic Paraplegia AR na na CACNA1E Epileptic Encephalopathy AD 99.94 25 of 25 CASK Nonspherocytic Hemolytic Anemia [igenomix.es]

  […] congenital lipomatosis of pancreas,Metaphyseal chondrodysplasia (Shwachman-Diamondtype), SDS Erkrankung : Siamesische Zwillinge ICD 10: Q 89.4 Synonyme : Siamese twins, Conjoint twins Erkrankung: Sichelzellenanämie ICD 10: D57.1 Synonyme: Sickle Cell Anemia [orphananesthesia.eu]

• Congestive Heart Failure

  However, at age 21/2 years, our patient developed congestive heart failure that was easily controlled with digitalis and diuretics. [jamanetwork.com]

• Pneumonia

  If your baby has severe breathing trouble, they may experience respiratory failure or complications such as pneumonia. However, if your child has a mild condition, they may grow up to live a full life. [my.clevelandclinic.org]

• Vomiting

  […] syndrome ICD 10: G43.A0 Synonyme : Cyclical vomiting, not intractable; persistent vomiting, cyclical; cyclic vomiting, psychogenic Name der Erkrankung: Systemisch beginnende juvenile rheumatoide Arthritis ICD 10: M08.2 Synonyme : SoJiA, systemic juvenile [orphananesthesia.eu]

• Heart Disease

  Heart disease is not considered as a part of the typical “core myopathy” spectrum. Some cardiac abnormalities described include mitral valve prolapse, arrhythmias, and asymptomatic right bundle branch block10. [ncbi.nlm.nih.gov]

• Myopathy

  multiminicore myopathy, and minicore-multicore myopathies. [medlink.com]

  Minicore myopathy, also called, multicore myopathy and multiminicore myopathy, falls under the umbrella of congenital myopathies. These are a group of conditions characterised by muscle weakness and wasting. [musculardystrophyuk.org]

  A fibre type disproportion myopathy was diagnosed. [jnnp.bmj.com]

  Protein aggregate myopathies. Neurol India 2005;53:273-9. [neurologyindia.com]

  […] disease Multi/minicore myopathy edit Language Label Description Also known as English multiminicore myopathy Multi-minicore Disease (MmD) is a hereditary neuromuscular disorder characterized by multiple cores on muscle biopsy and clinical features of [wikidata.org]

• Muscle Weakness

  In this form, the muscles of the ribcage and spine become stiff. In addition, the muscles needed for breathing are weak. This combination of muscle weakness and stiffness leads to severe or life-threatening respiratory problems. [medlineplus.gov]

  Muscle weakness: Muscles in your child’s neck, shoulders and pelvis (proximal muscles) are most commonly affected. Difficulty breathing: Feeling short of breath or like you can’t fill your lungs with air because of the weakness of breathing muscles. [my.clevelandclinic.org]

  Neurological examination failed to demonstrate muscle weakness in the son in whom only mild hypotonia was found. In the mother, mild weakness was detected in the neck flexors and proximal muscles of the lower limbs. [jnnp.bmj.com]

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

  Muscle weakness normally affects the proximal muscles, which are those muscles closest to the center of the body such as the muscles of the shoulder, pelvis and upper arms and legs. [rarediseases.org]

• Tremor

  Early compensation at birth may be due to fetal transcription of TNNT2 and TNNT3. [21] Onset is during the first few months of life with hypotonia, proximal weakness as well as jaw and limb tremors that resolve over a few months. [emedicine.medscape.com]

  Myopathy- Abnormal Genitalia Syndrome X,XR,G 99.98 NA of NA MUSK Fetal Akinesia Deformation Sequence, Congenital Myasthenic Syndrome AR 95.58 23 of 25 MYBPC1 Distal Arthrogryposis Type 1b, Lethal Congenital Contracture Syndrome, Congenital Myopathy With Tremor [igenomix.es]

  One stopped the medication because of tremors and palpitations. [ncbi.nlm.nih.gov]

• Global Developmental Delay

  Case 4 A nine-year-old boy presented with history of global developmental delay, generalized hypotonia and facial dysmorphism. There was history of difficulty in standing from sitting position, climbing stairs and running. [neurologyindia.com]

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

Treatment for all types of congenital myopathy involves managing your child’s symptoms. These treatments should include: Orthopedic treatment, if needed. Physical therapy. Occupational therapy. Speech therapy. [my.clevelandclinic.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]

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

Outlook / Prognosis What can I expect if my child has congenital myopathy? The prognosis for congenital myopathy varies greatly depending on the type and severity of your child’s condition. [my.clevelandclinic.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]

Although the diagnosis of either affection may not necessarily lead to a specific treatment, the prevention of life threatening complications, the development of supportive and symptomatic therapies, and adequate information concerning prognosis can be [jnnp.bmj.com]

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]

Arthrogryposis (multiple congenital contractures): Diagnostic approach to etiology, classification, genetics, and general principles. European Journal of Medical Genetics, 57(8), 464-472. doi:10.1016/j.ejmg.2014.03.008 Solicitar información [igenomix.es]

Determining the genetic defect in these patients will help to clarify the pathophysiological alterations that lead to fibre type disproportion. Myalgia was not a feature in previously described patients with multicore disease. [jnnp.bmj.com]

Pathophysiological concepts in the congenital myopathies: blurring the boundaries, sharpening the focus. [ncbi.nlm.nih.gov]

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 How can I reduce my risk of having a child with congenital myopathy? Because congenital myopathy is the result of a genetic change (mutation), the disorder can’t be prevented. [my.clevelandclinic.org]

A disruption in calcium ion transport prevents muscles from contracting normally, leading to the muscle weakness characteristic of multiminicore disease. RYR1 gene variants 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]