Presentation
An 18-year-old girl presented with nerve deafness and slowly progressive bulbo-spinal muscular atrophy, characteristic of MMND. [ncbi.nlm.nih.gov]
A clinical description of the disease is then presented and variations in India from the standard description are highlighted. [books.google.com]
Family history of MMND was present in more than a quarter (28.6%) of patients. [researchgate.net]
Entire Body System
-
Physician
In 2007 he received the Distinguished Physician Award from the American Association of Neuromuscular and Electrodiagnostic Medicine. Lahey Clinic's Medical Staff Association recognized Dr. [books.google.com]
Pediatricians, surgeons, physicians who specialize in diagnosing and treating disorders of brain and nervous system in children (pediatric neurologists), neurologists, physicians who specialize in diagnosing and treating disorders of the eye in children [rarediseases.org]
“Madras” motor neurone disease from “West Bengal” J Assoc Physicians India. 2005; 53 :321. [ Google Scholar ] 11. Phanthumchinda K., Supcharoen O., Mitrabukdi E. Madras pattern of motor neuron disease: case report from Thailand. [ncbi.nlm.nih.gov]
-
Slender Habitus
Classically majority had a slender habitus. The salient neurological symptoms and signs among these 10 patients are shown in Table 1. The predominant initial symptom at onset was impaired hearing in 6 patients (60.0%). [ncbi.nlm.nih.gov]
-
Increased Energy
الصفحة 137 - A disorder characterized by a persistent mild elevation of mood, increased energy and activity, and usually marked feelings of well-being and both physical and mental efficiency. [books.google.com]
Respiratoric
-
Hypophonia
Bulbar weakness in 10 patients (100.0%) [dysarthria in all 9 patients (90.0%), hypophonia in 9 patients (90.0%)]. Moderate to severe atrophy of the tongue with fasciculations was seen in 8 patients (80.0%). [ncbi.nlm.nih.gov]
Case Report In June 2016, a 34-year-old woman from Hunan Province in South China came to our hospital presenting with apparent weakness of the whole body, muscular atrophy, facial diplegia, hypophonia, dysphagia, and intermittent fasciculations of facial [frontiersin.org]
Jaw & Teeth
-
Tongue Atrophy
(B) Severe tongue atrophy. (C) Symmetrical atrophy of upper limbs with involvement of the proximal and distal parts to the same extent. (D) Symmetrical atrophy of the lower limbs. [frontiersin.org]
-
Fasciculation of the Tongue
of the tongue and weakness of tongue, which can contribute to swallowing difficulties. [rarediseases.org]
Ears
-
Normal Hearing
FAZIO LONDE DISEASE-AR,EARLY AGE AT ONSET,RARITY OF PYRAMIDAL SIGNS, NORMAL HEARING,RAPIDLY PROGRESSIVE FATAL COURSE SPORADIC ALS-OTHER FEATURES LIKE CHOREA,CEREBELLAR ATAXIA, ABSENCE OF DEAFNESS, LATE INVOLVEMENT OF BULBAR NUCLEI 43. [slideshare.net]
Based on AFA, the patients were grouped as per the three frequency average classification [29] as normal hearing ( 10 to 25 dB), mild (26–40 dB), moderate (41–55 dB), moderately severe (56–70 dB), severe (71–90 dB) and profound ( 90 dB) hearing loss. [ncbi.nlm.nih.gov]
Psychiatrical
-
Distractibility
الصفحة 148 - The mental fatiguability is typically described as an unpleasant intrusion of distracting associations or recollections, difficulty in concentrating, and generally inefficient thinking. [books.google.com]
Onset
-
Neonate-Onset
Maternal riboflavin deficiency, resulting in transient neonatal-onset glutaric aciduria Type 2, is caused by a microdeletion in the riboflavin transporter gene GPR172B. Hum Mutat. 2011; 32 (1):E1976–E1984. [ Google Scholar ] 24. [ncbi.nlm.nih.gov]
Maternal riboflavin deficiency, resulting in transient neonatal-onset glutaric aciduria Type 2, is caused by a microdeletion in the riboflavin transporter gene GPR172B. Hum Mutat. 2011;32:E1976–84. Yao Y, Yonezawa A, Yoshimatsu H, et al. [rarediseases.org]
Neurologic
-
Cerebellar Sign
She had no hearing loss, visual problems, or cerebellar signs. Her parents had a consanguineous marriage, though there was no family history of these symptoms. Pure tone audiometric findings demonstrated no definite abnormality. [wwww.unboundmedicine.com]
signs 3 30.0 6. [ncbi.nlm.nih.gov]
-
Gait Ataxia
Mild cerebellar signs such as gait ataxia were found in 3 patients (30.0%). Higher mental functions were normal in all. Table 1 Clinical features of 10 patients with MMND. [ncbi.nlm.nih.gov]
-
Confabulation
Confabulation may be a marked feature, but perception and other cognitive functions, including the intellect, are usually intact. The prognosis depends on the course of the underlying lesion. [books.google.com]
Workup
Clinical Testing and Workup Affected individuals may undergo an electromyogram, which is a test that evaluates muscles and the nerves that serve those muscles. [rarediseases.org]
Other Pathologies
-
Lymphocytic Infiltrate
Perivascular and intraparenchymal lymphocytic infiltrates were found in the spinal cord of 18 of 27 consecutive ALS autopsy cases. The lymphocytes possessed only T-cell markers; no B-cell markers could be demonstrated. [researchgate.net]
Treatment
He is currently involved in multiple clinical trials of novel genetic interventions for the treatment of spinal muscular atrophy and Duchenne muscular dystrophy. [books.google.com]
Therefore, treatment with intravenous immunoglobulin 400 mg/kg once daily was administered for 5 days, and improvement of symptoms was noted at 6 months of follow up. [researchgate.net]
The treatment for Motor Neuron Disease with stem cells is non surgical and minimally invasive. [stemcellthailand.org]
Yet, immunoglobulin treatment is based on the assumption of inflammatory etiology of MMND, but not a proven treatment. Rarity of MNND in itself is an impediment for evolving a possible treatment. [rarediseasesindia.org]
Treatment : 1. The patient and the relatives should be timely informed about the seriousness of the disease, so that the patient can make arrangements for the rest of his life. 2. [brainkart.com]
Prognosis
The prognosis depends on the course of the underlying lesion. [books.google.com]
Geographic factors had no effect on prognosis. 1983 S. Karger AG, Basel Article / Publication Details First-Page Preview [karger.com]
Prognosis The disease shows a slowly progressive but benign course. Most of the reported patients survived for over 30 years after the onset of the disease. The documents contained in this web site are presented for information purposes only. [orpha.net]
Prognosis Amyotrophic lateral sclerosis progresses relentlessly, in both the severity and the extent of muscular involvement. [enetmd.com]
MMND tends to be sporadic. [5] Management [ edit ] As of 2010, there was no cure for MMND. [4] People with MMND are given supportive care to help them cope, which can include physical therapy, occupational therapy, counselling, and hearing aids. [3] Prognosis [en.wikipedia.org]
Etiology
Etiology The etiopathogenesis of MMND remains unknown. The majority of cases are sporadic. A few familial cases have been reported, but the mode of inheritance is yet to be determined. [orpha.net]
Inflammatory etiology in MMND is suggested. [rarediseasesindia.org]
Past history was not significant for DM, TB, drug or toxin exposure or autoimmune etiology. On Examination, higher mental functions were normal, there was bilateral ptosis with bilateral facial nerve weakness. [japi.org]
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]
Epidemiology
Each chapter begins with a shot historical account of the disease, followed by a critical evaluation of the epidemiological and/or hospital based data. This is then compared with the data of other global populations. [books.google.com]
Summary Epidemiology Less than 200 cases have be reported to date, predominantly from Southern India. Isolated MMND cases have been reported from Thailand and Italy. [orpha.net]
Generally, affected individuals survive up to 30 years after they are diagnosed. [3] Epidemiology [ edit ] As of 2008 under 200 cases have been reported worldwide. The disease affects males and females in equal rates. [en.wikipedia.org]
Pathophysiology
This seems to suggest that the pathophysiology of MND-Madras may centre round altered citrate metabolism. From 1977 through 1981, we examined 23 patients with single-limb atrophy. Thirteen had upper-limb and ten had lower-limb involvement. [researchgate.net]
Additionally, Valmikinathan et al. (1973) suggested that the pathophysiology of MMND might be associated with altered citrate metabolism. [frontiersin.org]
Pathophysiology of motor dysfunction in a childhood motor neuron disease caused by mutations in the riboflavin transporter. Clin Neurophysiol. 2016;127:911-918. Foley AR, Menezes MP, Pandraud A, et al. [rarediseases.org]
Further mutation screening of C20orf54 and attention to genotype/phenotype correlations are expected to enhance understanding of the molecular basis and pathophysiology of BVVLS and related disorders. 4 Figure 2 Schematic presentation of positions of [nature.com]
Prevention
Because riboflavin transporter deficiency is treatable, prompt diagnosis and early treatment is essential to prevent irreversible neurological damage. [rarediseases.org]
With IvIg administered sufficiently regularly to prevent end-of-dose deterioration, progressive motor axonal loss can be largely or completely prevented. [enetmd.com]
You'll be given eardrops to prevent the infection from returning. You're likely to recover fully without complications if the tumor is caught and treated early with surgery. [ajitvadakayil.blogspot.com]
The development of technologies for detecting or preventing drowsiness has been done thru several methods, some research used EEG for drowsy detection ,and some used eyeblink sensors,this project uses web camera for Drowsy detection. 1845–1856 Data (PDF [steuerberaterin-vellmann.de]