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]

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]

Common presentations involve bulbar palsy (92%), hearing loss (81%), facial weakness (77%), respiratory compromise (64%), and muscle weakness (55%). 3 The mean age of onset is 8.2 years. 2 Our case presented all these common phenotypes starting at the [nature.com]

• 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]

• 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). [enacademic.com]

  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]

However, because the disease is so often fatal without treatment, and because the treatment is so inexpensive and with little risk, it is recommended that if the disease is suspected that riboflavin therapy be started immediately while testing is in progress [en.wikipedia.org]

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]

The infant fully recovered after riboflavin treatment[ 10, 11 ]. [doi.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 - Fazio Londe syndrome Not supplied. Treatment - Fazio Londe syndrome Not supplied. Resources - Fazio Londe syndrome Not supplied. [checkorphan.org]

|volume=27 |issue=6 |pages=443-446 |year=2005 |month=September |pmid=16122634 |doi=10.1016/j.braindev.2004.10.003 |url=http://linkinghub.elsevier.com/retrieve/pii/S0387-7604(04)00201-3 ] Prognosis Onset of first symptom has been reported between 1-12 [enacademic.com]

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]

The original reference is provided for historical interest, and review articles are included to show recent advances in etiology and treatment. [books.google.com]

Primary lateral sclerosis The etiology of primary lateral sclerosis (PLS) is unknown, but it may be similar to that proposed for ALS. [emedicine.medscape.com]

The BVVL syndrome is a rare neurological disorder of unknown etiology, characterized by progressive pontobulbar palsy associated with sensorineural deafness. [1] The sensorineural hearing loss with progressive weakness and atrophy in upper limbs and tongue [pediatricneurosciences.com]

Distal SMA is an increasingly recognized group of rare diseases with varied genetic etiologies. Over 20 distinct genetic subtypes have been identified. [academlib.com]

Journal of clinical epidemiology. 54 (8): 857–62. PMID 11470397. [wikidoc.org]

Epidemiological Investigations of Amyotrophic Lateral Sclerosis: 2. Familial Aggregations Indicative of a Dominant Inheritance, Neurology 5:182-196, 249-268, 1955.Crossref 18. Gowers, W. [deepdyve.com]

Prospective cohort studies are considered to yield the most reliable results in observational epidemiology and they enable a wide range of exposure-disease associations to be studied. [wikivisually.com]

Epidemiologic data suggest that smoking may be an established risk factor for sporadic ALS. [8] The peak age of onset is between 55 and 75 years. [emedicine.medscape.com]

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]

However, since 2010 insights into the pathophysiology, genetics and treatment of this disorder have increased tremendously. [doi.org]

Pathophysiology The disease causes fatty liver with minimal inflammation, and severe encephalopathy (with swelling of the brain). The liver may become slightly enlarged and firm, and there is a change in the appearance of the kidneys. [wikidoc.org]

Knowledge of the pathogenesis, genetics, and molecular biology of neuromuscular disorders is essential both in developing and applying new therapies and preventive measures, and in formulating genetic and prognostic advice. [books.google.com]

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]

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]

Postural changes can help with drooling of saliva and may prevent aspiration. [patient.info]