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Fazio-Londe Disease


Presentation

  • Abstract We report on three patients (two siblings and one unrelated) presenting in infancy with progressive muscle weakness and paralysis of the diaphragm.[doi.org]
  • Two children presented in the first 16 months of life with stridor and died of respiratory failure by the age of 2 years. Hearing loss was not apparent in these infants.[ncbi.nlm.nih.gov]
  • We present the 8th case so far published of generalized giant axonal neuropathy. Many features of the neurological picture of this 8 year 8 month old boy were suggestive of progressive bulbar paralysis of childhood.[ncbi.nlm.nih.gov]
  • A review of the literature, combined with the present series, suggests that there are at least three distinct subtypes: a very rare autosomal dominant form (as described by Fazio) and two variants with probable autosomal recessive inheritance either with[ncbi.nlm.nih.gov]
  • It may present in childhood with severe neurological deterioration with hypotonia, respiratory insufficiency leading to premature death, or later in life with bulbar weakness which progresses to involve motor neurons throughout the neuroaxis.[malacards.org]
Italian
  • ., Italian physician, 1849-1902. Fazio-Londe atrophy - hereditary trait leading to muscular atrophy. Synonym(s): Fazio-Londe disease Londe, P.F.L., French neurologist, 1865-1944. Fazio-Londe atrophy - see under Fazio[medical-dictionary.thefreedictionary.com]
  • […] citation needed ] Strength may improve with administration of cholinesterase inhibitors. [ citation needed ] History [ edit ] Berger, in 1876, first reported a case of 12-year-old child with progressive bulbar paralysis Eponym [ edit ] It is named for the Italian[en.wikipedia.org]
Pathologist
  • […] needed ] Strength may improve with administration of cholinesterase inhibitors. [ citation needed ] History [ edit ] Berger, in 1876, first reported a case of 12-year-old child with progressive bulbar paralysis Eponym [ edit ] It is named for the Italian pathologist[en.wikipedia.org]
  • PMID: 24253200 Assay Assay and technical information Invitae is a College of American Pathologists (CAP)-accredited and Clinical Laboratory Improvement Amendments (CLIA)-certified clinical diagnostic laboratory performing full-gene sequencing and deletion[invitae.com]
Asymptomatic
  • In the pediatric Appropriate Use Criteria (AUC), abnormal electrocardiogram (ECG) in an asymptomatic patient has been rated as an "Appropriate" indication for transthoracic echocardiogram (TTE). We hy...[bioportfolio.com]
Pharyngitis
  • Signs and symptoms [ edit ] FLD produces rapidly progressive weakness of tongue, face and pharyngeal muscles in a clinical pattern similar to myasthenia.[en.wikipedia.org]
  • Presentation It produces rapidly progressive weakness of tongue, face and pharyngeal muscles in a clinical pattern similar to myasthenia bulbar palsy.[enacademic.com]
  • As swallowing, tongue control, and pharyngeal muscles weaken, a speech therapist and nutritionist may be consulted.[secure.ssa.gov]
Irregular Heart Rhythm
  • Several situations and medical conditions can cause abnormal EKG results, including electrolyte imbalances and irregular heart rhythms. Learn more in this article.[bioportfolio.com]
Suggestibility
  • Muscle biopsy was also suggestive of neurogenic atrophy.[ncbi.nlm.nih.gov]
  • The observation of affected males and females born to consanguineous first cousin parents suggests autosomal recessive inheritance.[ncbi.nlm.nih.gov]
  • A review of the literature, combined with the present series, suggests that there are at least three distinct subtypes: a very rare autosomal dominant form (as described by Fazio) and two variants with probable autosomal recessive inheritance either with[ncbi.nlm.nih.gov]
  • Many features of the neurological picture of this 8 year 8 month old boy were suggestive of progressive bulbar paralysis of childhood. Muscle and sural nerve biopsies disclosed typical nodular axonal swellings measuring between 10--29 nm.[ncbi.nlm.nih.gov]
Cranial Nerve Involvement
  • Other cranial nerves involved were vagus, trigeminal, spinal accessory nerve, abducent, occulomotor and glossopharyngeal in this order. Corticospinal tract signs were found in 2 of the 14 patients.[en.wikipedia.org]
  • nerve involvement (nerves VIII—XII), can include lower and upper motor neurone limb signs, respiratory compromise, facial weakness, sensory ataxia and optic atrophy. 2 , 4 Half of the cases are familial, arising with an autosomal recessive pattern of[pn.bmj.com]
Motor Symptoms
  • Clinical course can be divided into early ( 6 yrs age, predominance of respiratory symptoms) and late course (6–20 years of age, predominance of motor symptoms on superior limbs).[en.wikipedia.org]
  • Clinical course can be divided into early ( 6 yrs age, predominance of respiratory symptoms) and late course (6-20 years of age, predominance of motor symptoms on superior limbs).[enacademic.com]
Sleep Disturbance
  • The Apolipoprotein (APOE) ε4 allele is a well-known risk factor for Alzheimer's Disease (AD), and sleep disturbances are commonly associated with AD. However, few studies have investigated the relati...[bioportfolio.com]

Treatment

  • Treatment Currently, no cure or standard treatments have been found for the disease. However, its early detection provides an optimal situation wherein doctors can devise a treatment plan for the condition.[medigest.uk]
  • Successful treatment of Fazio Londe disease/Brown-Vialetto-van-Laere syndrome with riboflavin Spagnoli, C ; Pitt, MC ; Josifova, D ; (2011) Successful treatment of Fazio Londe disease/Brown-Vialetto-van-Laere syndrome with riboflavin.[discovery.ucl.ac.uk]
  • You can help by adding to it. ( August 2017 ) Treatment [ edit ] The condition is treatable. [5] High doses of oral riboflavin 5 phosphate may work. [6] If that didn't work sublingual FAD may work.[en.wikipedia.org]
  • In addition to summarizing basic science and important technological aspects of diagnosis and treatment, this edition presents new chapters—on sleep and memory consolidation, neuroimaging, and more—in a color layout that makes it easy to access the latest[books.google.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]

Prognosis

  • Prognosis - Fazio Londe syndrome Not supplied. Treatment - Fazio Londe syndrome Not supplied. Resources - Fazio Londe syndrome Not supplied.[checkorphan.org]
  • Prognosis [ edit ] Onset of first symptom has been reported between 1–12 years, with a mean age of onset at 8 years.[en.wikipedia.org]
  • […] variability in age at onset and disease progression highlighting the phenotypic overlap with Fazio-Londe disease journal Brain Dev. volume 27 issue 6 pages 443-446 year 2005 month September pmid 16122634 doi 10.1016/j.braindev.2004.10.003 url (04)00201-3 ] Prognosis[enacademic.com]

Etiology

  • As the diagnosis in the group of patients reported before 2010 was based on symptoms only, the disease in these patients may well result from a very diverse etiology. Since 2010, a much more defined group of patients has been reported.[doi.org]

Pathophysiology

  • However, since 2010 insights into the pathophysiology, genetics and treatment of this disorder have increased tremendously.[doi.org]
  • Milder phenotypes do occur, but rarely present past the third decade. 1 , 2 Despite its first description in 1894, only recently has an understanding of the genetic and pathophysiological basis for BVVL opened the opportunity for therapeutic intervention[pn.bmj.com]

Prevention

  • Decreased diaphragm motility * Premature death Causes - Fazio Londe syndrome * Drooping upper eyelid * Facial weakness * Premature death * Progressive muscle weakness * Reduced reflexes * Respiratory difficulty * Speaking difficulty * Swallowing difficulty Prevention[checkorphan.org]
  • Is chronic lung disease in low birth weight infants preventable? A survey of eight centers. ‎ Página 84 - Tanner JM, Whitehouse RH, Marubini E, Resele LF. The adolescent growth spurt of boys and girls of the Harpenden growth study. ‎[books.google.es]
  • Postural changes can help with drooling of saliva and may prevent aspiration.[patient.info]
  • Complications include scoliosis and joint contractures-chronic shortening of muscles or tendons around joints, caused by abnormal muscle tone and weakness, which prevents the joints from moving freely.[motor-neuron.com]

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