Ptosis was present in 43%, one third had scoliosis and two patients had hip dislocation Conclusions: CFTD is one of the rare congenital myopathies, usually presenting with congenital hypotonia and weakness but may also present in later in life. [neurology.org]

Congenital hip dislocation and talipes equinovarus may also be present. In rare cases, cardiac involvement, cognitive impairment and cryptorchidism may occur. [orpha.net]

While only congenital fiber type disproportion was observed in the younger patient, older patient's biopsy presented aggregates of slow myosin heavy chains, in fiber sub-sarcolemmal region. [readbyqxmd.com]

After a review of the clinical and histopathological aspects of the disease, the present work described craniofacial skeletal and EMG features of a 9-year-old child affected by CFTD. [ncbi.nlm.nih.gov]

• Hunting

  Ho SN, Hunt HD, Horton RM, Pullen JK, Pease LR: Site-directed mutagenesis by overlap extension using the polymerase chain reaction. Gene 1989;77:51–59. Chen C, Okayama H: High-efficiency transformation of mammalian cells by plasmid DNA. [karger.com]

• Night Blindness

  Blindness, Type 1 CSNB2 - Congenital Stationary Night Blindness Type 2 RCM I - Recessive Congenital Methemoglobinemia Type I T1FP - Type 1 Fiber Predominance CDA1 - Congenital Dyserythropoietic Anemia, type I CCA - Cataract, Congenital, Cerulean type [acronymsandslang.com]

• Unstable Gait

  This pa-nd unstable gait fromt prominent ber typeJournal of the Neurological Sciences 340 (2014) 9498Contents lists available at ScienceDirectJournal of the Neurj ourna l homepage: www.eweakness of respiratory and neck muscles from infancy. [documents.tips]

• Meningism

  Ferri’s popular "5 books in 1" format provides quick guidance on short QT syndrome, microscopic polyangiitis, fungal meningitis, and much more. This medical reference makes the answers you need even easier to find - anytime, anywhere. [books.google.com]

Routine laboratory workup of affected individuals disclosed no specific abnormalities, including muscle enzymes. [academic.oup.com]

• Incomplete Right Bundle Branch Block

  Cardiac involvement, suchdisproportion (FTD) on his muscle biopsy performed at 4years of age.At his age of 16 years, hewas pointed out to have atrial-ventricular con-duction block and incomplete right bundle branch block. [documents.tips]

The second (unrelated) child developed atrial fibrillation with rapid atrioventricular conduction requiring treatment with digoxin. [ncbi.nlm.nih.gov]

The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment. [orpha.net]

Treatment - Congenital fiber type disproportion Treatment of Congenital fiber type disproportion may consist of active and passive exercises and physical therapy to promote muscle function. [checkorphan.org]

No proven effective therapy other than symptomatic treatment Symptomatic treatment has shown to be helpful in many patients ( Semin Pediatr Neurol 2011;18:230 ) Mechanical nighttime ventilation Orthoses Nasogastric feeding and nutritional support Aggressive [pathologyoutlines.com]

CLOSE Medical Disclaimer The medical information on this site is provided as an information resource only, and is not to be used or relied on for any diagnostic or treatment purposes. [diseaseinfosearch.org]

CFTD is characterized by non-progressive childhood neuromuscular disorders with a relatively good prognosis and type 1 fiber predominance and smallness. [ncbi.nlm.nih.gov]

Prognosis Over time, CFTDM becomes static in more than 90% of patients or even shows improvement and, rarely, is slowly progressive. The documents contained in this web site are presented for information purposes only. [orpha.net]

Tale quadro, in contrasto a quanto riportato in letteratura, si ~ accompagnato ad una prognosi infausta con decesso della bambina a 17 mesi. Address reprint requests to Dr. P. [docslide.com.br]

Prognosis - Congenital fiber type disproportion The prognosis is relatively favorable in most patients. [checkorphan.org]

Etiology Causative mutations have been identified in two genes, ACTA1 and SEPN1. Diagnostic methods Diagnosis is based on a combination of clinical presentation and morphologic features observed on skeletal muscle histology. [orpha.net]

結節性硬化症 Tuberous sclerosis complex （TSC), unknown genetic etiology 結節性硬化症、遺伝子型不明 1 不要 有 HPS2395 HPS2396 HPS2397 HPS2398 HPS2399 HPS2400 159. [cell.brc.riken.jp]

The diverse etiologies of the disorder as a syndrome rather than a disease and its association in some cases with specific metabolic diseases were first recognized by Martin and colleagues ( Martin et al 1976 ). [medlink.com]

Material and Method Muscle tissue was obtained from 21 patients, ranging in age from three months to five years, in order to help evaluate the etiology of motor delay associated with hypotonia. [documentslide.com]

As such, consideration for the specific etiology is needed. Additionally, many infants/neonates with congenital myopathy can make improvements in the first few years of life. [emedicine.medscape.com]

Summary Epidemiology Prevalence is unknown, incidence is estimated to be inferior than 1:50,000 live births. Clinical description Limb weakness may be greatest in the limb girdle and proximal limb muscles, but weakness is never solely distal. [orpha.net]

Epidemiology: Worldwide: Incidence:6 per 100,000 live births or 1/10th of all neuromuscular disorders. [slideshare.net]

Epidemiology Frequency The true incidence of congenital myopathies is unknown as no large population-based studies have been conducted. However, there are a varied number of stuidies that demonstrate a relative incidence of the diseases. [emedicine.medscape.com]

センター神経内科 Department of Neurology, Tokyo Metropolitan Children’s Medical Center ◇ Tokyo, Japan 3 国立精神・神経医療研究センター神経研究所疾病研究第一部 Department of Neuromuscular Research, National Center of Neurology and Psychiatry ◇ Tokyo, Japan 4 東京医科大学病態生理学分野 Department of Pathophysiology [jpccs.jp]

No.6 doi: 10.1212/CON.0000000000000404 REVIEW ARTICLES Article Related Links Abstract Purpose of Review: This article uses a case-based approach to highlight the clinical features as well as recent advances in molecular genetics, muscle imaging, and pathophysiology [journals.lww.com]

[…] severity Most common mutations are NEB (recessive) and ACTA1 (dominant) Terminology Nemaline myopathy (NM), nemaline rod myopathy "Nemaline" means thread-like, describes the appearance of rods ( Semin Pediatr Neurol 2011;18:230 ) Greek nema = thread Pathophysiology [pathologyoutlines.com]

Moller DE, O’Rahilly S: Syndromes of severe insulin resistance: Clinical and pathophysiological features; in Moller D (ed): Insulin Resistance. Chichester, Wiley & Sons, 1993, pp 49–81. [karger.com]

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]

Although FTD is not a constant pathological feature of LMNA-myopathy, we should consider the possibility of LMNA-myopathy whenever a diagnosis of CFTD is made and take steps to prevent cardiac insufficiency. Copyright © 2014 Elsevier B.V. [ncbi.nlm.nih.gov]

Rapidly find the answers you need with separate sections on diseases and disorders, differential diagnosis, clinical algorithms, laboratory results, and clinical preventive services, plus an at-a-glance format that uses cross-references, outlines, bullets [books.google.com]

Prevention - Congenital fiber type disproportion Not supplied. Diagnosis - Congenital fiber type disproportion The diagnosis of congenital fiber type disproportion is controversial. [checkorphan.org]

There is no cure for NEM to date, but a number of procedurescould significantly improve the quality of life 1, 15 : Treatment of lower respiratory tract infections Ventilator use for nocturnal hypoxia Special feeding techniques Physical therapy to help prevent [centogene.com]

Pedigree: Autosomal dominant Autosomal recessive Treatment Treatment Options: The best treatment is prevention by using alternate anesthetic agents if the risk is recognized preoperatively. [disorders.eyes.arizona.edu]