| Fazio-Londe syndrome Classification and external resources |
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| ICD-10 | G12.1 |
|---|---|
| ICD-9 | 335.2 |
| OMIM | 211500 |
| DiseasesDB | 29491 |
| MeSH | D010244 |
Fazio Londe Syndrome is an inherited motor neuron disease found in children and young adults. The International Statistical Classification of Diseases and Related Health Problems (most commonly known by the abbreviation ICD) provides codes to classify Diseases The International Statistical Classification of Diseases and Related Health Problems 10th Revision ( ICD -10) is a coding of diseases and signs symptoms abnormal findings G00-G99 - Diseases of the Nervous system (G00-G09 Inflammatory diseases of the Central nervous system ( Bacterial meningitis The International Statistical Classification of Diseases and Related Health Problems (most commonly known by the abbreviation ICD) provides codes to classify Diseases The following is a list of codes for International Statistical Classification of Diseases and Related Health Problems. The Mendelian Inheritance in Man project is a Database that catalogues all the known Diseases with a genetic component, and—when possible—links them The Diseases Database is a free Website that provides information about the relationships between medical conditions Symptoms, and Medications. Medical Subject Headings ( MeSH) is a huge Controlled vocabulary (or metadata system for the purpose of indexing journal articles and books The motor neurone diseases (or motor neuron diseases) (MND are a group of progressive neurological disorders that destroy Motor neurones the cells that control voluntary
Progressive bulbar paralysis of childhood is characterised by progressive paralysis of muscles innervated by cranial nerves. Progressive Bulbar Palsy (also known simply as PBP) belongs to a group of disorders known as motor neuron diseases ( Lapiedra 2002) Cranial nerves are Nerves that emerge directly from the Brain stem in contrast to Spinal nerves which emerge from segments of the Spinal cord.
Contents |
Presentation
It produces rapidly progressive weakness of tongue, face and pharyngeal muscles in a clinical pattern similar to myasthenia bulbar palsy. Myasthenia gravis (literally "serious muscle-weakness" from Greek μύς "muscle" "weakness" and Latin gravis Neuromuscular transmission may be abnormal in these muscles because of rapid denervation and immature reinervation, and strength may improve with administration of cholinesterase inhibitors. Paralysis occurs secondary to degeneration of the motor neurons of the brain stem. The brain stem (or brainstem) is the lower part of the Brain, adjoining and structurally continuous with the Spinal cord. It causes progressive bulbar paralysis due to involvement of motor neurons of the cranial nerve nuclei. The most frequent symptoms at onset of progressive bulbar paralysis of childhood has been a unilateral facial paralysis. It is followed in frequency by dysarthria due to facial weakness or by dysphagia. Dysarthria is a motor Speech disorder resulting from neurological injury, characterised by poor articulation (cf Dysphagia should not be confused with the similarly pronounced Dysphasia, a language disorder Palatal weakness and palpebral ptosis also have been reported in few patients. Both sexes can be affected.
Prognosis
Onset of first symptom has been reported between 1–12 years, with a mean age of onset at 8 years. Genetic expression is either an autosomal dominant or an autosomal recessive type. 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). Progression to involve other cranial nerve muscles occurs over a period of months or years. In the Gomez review facial nerve was affected in all cases while hypoglossal nerve was involved in all except one case. 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.
The disease may progress to patient′s death in a period as short as 9 months or may have a slow evolution or may show plateaus. Post mortem examination of cases have found depletion of nerve cells in the nuclei of cranial nerves. The histologic alterations found in patient with Fazio-Londe disease were identical to those seen in Werdnig-Hoffman syndrome. Werdnig-Hoffman disease (also known as "Severe infantile spinal muscular atrophy" or "spinal muscular atrophy type I" is an Autosomal recessive Fazio-Londe disease, infantile progressive spinal muscular atrophy (Werdnig-Hoffman syndrome), Juvenile progressive spinal muscular atrophy (Kugelberg-Welander disease) and the juvenile type of slowly progressive bulbar palsy, all have been considered variants of chronic progressive disease of lower motor neurons. Kugelberg-Welander disease (also known as juvenile spinal muscular atrophy, spinal muscular atrophy type III) is an Autosomal recessive muscular disease
History
Berger, in 1876, first reported a case of 12-year-old child with progressive bulbar paralysis. From India, Reddy and Murthy first reported a Fazio-Londe disease case in 1982. Until now only 31 cases have been published in the literature.
It is named for E. Fazio and Paul Londe. [1][2]
It has been proposed that it and Brown-Vialetto-Van-Laere syndrome are a single condition. Infantile Progressive Bulbar palsy is a rare type of Progressive bulbar palsy that occurs in children [3]
References
- ^ synd/1909 at Who Named It
- ^ Londe, P. Who Named It? is an English-language dictionary of medical eponyms and the People associated with their identification Paralysie bulbaire progressive, infantile et familiale. Rev. Med. 14: 212-254, 1894.
- ^ Dipti S, Childs AM, Livingston JH, et al (September 2005). "Brown-Vialetto-Van Laere syndrome; variability in age at onset and disease progression highlighting the phenotypic overlap with Fazio-Londe disease". Brain Dev. 27 (6): 443–6. doi:. A digital object identifier ( DOI) is a permanent identifier given to an Electronic document. PMID 16122634.
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