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]

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]

FL is said to present in the first decade of life while BVVL presented in the 2 nd decade of life. [ncbi.nlm.nih.gov]

• Short Stature

  Abnormal growth and short stature are observed in patients with mitochondrial disease but it is unclear whether there is a relationship between final adult height, and disease severity. [bioportfolio.com]

  […] and abnormal fifth digits bilateral-Robin anomaly Fryns Dereymaeker Haegeman Femoral dysgenesis femoral epiphyseal dysplasia syndrome PPPP type 1 Usher syndrome characteristic ear shape and short short stature and Porokeratosis punctata palmaris et stature [yumpu.com]

  […] skeletal dysplasia * Camptodactyly syndrome Guadalajara type 1 * Camptodactyly syndrome Guadalajara type 2 * Camptodactyly taurinuria * Camptodactyly vertebral fusion * Camptodactyly, fibrous tissue hyperplasia, and skeletal dysplasia * Camptodactyly, tall stature [medicalgeek.com]

• Stridor

  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]

  This condition is characterized by facial weakness, dysphagia, stridor, dysarthria, and paralysis of the eye muscles. [diseaseinfosearch.org]

  Symptoms of Fazio-Londe disease appear between 1 and 12 years of age and may include facial weakness, dysphagia (difficulty swallowing), stridor (a high-pitched respiratory sound often associated with acute blockage of the larynx), difficulty speaking [motor-neuron.com]

• Hiccup

  Chromosome 9q deletion syndrome * Chromosome 9q duplication * Chromosomes 1 and 2, monosomy 2q duplication 1p * Chronic berylliosis * Chronic demyelinizing neuropathy with IgM monoclonal * Chronic erosive gastritis * Chronic granulomatous disease * Chronic hiccup [medicalgeek.com]

• Hearing Impairment

  The other four cases reported in our country were female, all sporadic with negative family history and presented with bilateral hearing loss. [4] However, in few studies other findings were preceding the hearing impairment, as Sathasivam et al. reported [pediatricneurosciences.com]

  No hearing impairment is seen. Spinal muscular atrophy The clinical picture of spinal muscular atrophy (SMA) is highly variable and represents a continuum. The age of onset ranges from before birth to adulthood. [emedicine.medscape.com]

• Peripheral Neuropathy

  133020 SCN9A160.50.980.96{Dravet syndrome, modifier of},607208 SH3TC2122.40.990.99Charcot-Marie-Tooth disease, type 4C,601596 SH3TC2122.40.990.99Mononeuropathy of the median nerve, mild,613353 SLC12A6169.610.99Agenesis of the corpus callosum with peripheral [qgenomics.com]

  This patient had a milder phenotype, manifested by disease onset in the second decade, an initial presentation of peripheral neuropathy and untreated survival into the sixth decade. [pn.bmj.com]

  * Cervical hypertrichosis peripheral neuropathy * Cervical intraepithelial neoplasia * Cervical ribs sprengel anomaly anal atresia urethral obstruction * Cervical vertebral fusion * Cervicooculoacoustic syndrome * Chagas disease * Chalazion * Chancroid [medicalgeek.com]

• Hyperreflexia

  Clinical manifestations include progressive weakness, atrophy, fasciculation, hyperreflexia, dysarthria, dysphagia, and eventual paralysis of respiratory function. [icd9data.com]

  The essential clinical findings are slowly progressive and often include severe spasticity, hyperreflexia, and weakness in a pyramidal distribution, noticeably in both lower limbs, with extensor plantar responses. [emedicine.medscape.com]

• Areflexia

  In this slowly progressive condition, hearing loss and vestibular areflexia are almost always the first symptoms, occurring in late childhood or early adulthood. [jamanetwork.com]

  respiratory distress, and dysphagia, early-onset,614399 MEGF10169.810.99Myopathy, areflexia, respiratory distress, and dysphagia, early-onset, mild variant,614399 MICU11400.950.91Myopathy with extrapyramidal signs,615673 MSTN200.510.99Muscle hypertrophy [qgenomics.com]

  * Cephalopolysyndactyly * Ceramide trihexosidosis * Cercarial Dermatitis * Cerebellar agenesis * Cerebellar ataxia * Cerebellar ataxia ectodermal dysplasia * Cerebellar ataxia infantile with progressive external ophthalmoplegia * Cerebellar ataxia, areflexia [medicalgeek.com]

• Slurred Speech

  Other examples of nerve degeneration include vocal cord paralysis, ptosis (droopy eyelids), facial weakness, slurred speech, dysphagia (difficulty swallowing), visual difficulty secondary to optic atrophy, neck and shoulder weakness, limb weakness, autonomic [snpedia.com]

  speech Vocal cord paralysis Droopy eyelids Difficulty swallowing Visual impairment caused by damage to the optic nerve Neck and shoulder weakness Weakness in the arms and legs Breathing difficulties Anomalies in any of the involuntary functions in the [facialpalsy.org.uk]

The Brown-Vialetto-Van Laere and Fazio Londe syndrome revisited: natural history, genetics, treatment and future perspectives. Orphanet J Rare Dis 2012; 7 : 83. 3. [nature.com]

The infant fully recovered after riboflavin treatment[ 10, 11 ]. [doi.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]

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]

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]

ICD-9 : 335.22 ONSET AND PROGRESSION The prognosis for PBP is poor. The symptoms of PBP slowly worsen with onset beginning between the ages of 50-70 years. [secure.ssa.gov]

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]

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

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]

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]

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]

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]

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]