An 18-year-old girl presented with nerve deafness and slowly progressive bulbo-spinal muscular atrophy, characteristic of MMND. [link.springer.com]

Case Presentation and Intervention: A 59-year-old man presented with muscle weakness and fasciculations in the upper extremities. Neurological examination showed that the fasciculations arose spontaneously in the upper limbs. [search.bvsalud.org]

Discussion This young boy presented with a clinical syndrome of progressive wasting and weakness in the upper extremities, and fasciculation and atrophy of the tongue. [archive.nmji.in]

• 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]

• 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]

• Normal Hearing

  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]

• 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]

• Microscopic Hematuria

  Urine analysis revealed microscopic hematuria. Abdominal computerized tomography scans showed a 9.5 x 8 cm renal mass in the lower pole of the right kidney. Curative right radical nephrectomy was performed. [search.bvsalud.org]

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]

Management and treatment Currently, there is no cure for MMND. [orpha.net]

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]

The treatment for Motor Neuron Disease with stem cells is non surgical and minimally invasive. [stemcellthailand.org]

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. [archive.nmji.in]

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 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]

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]

[2] Management[edit] As of 2010, there was no cure for MMND.[3] People with MMND are given supportive care to help them cope, which can include physical therapy, occupational therapy, counselling, speech and swallowing therapy, and hearing aids.[2] Prognosis [en.wikipedia.org]

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]

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.[2] Epidemiology[edit] As of 2008 under 200 cases have been reported worldwide. The disease affects males and females in equal rates. [en.wikipedia.org]

The pathophysiological substratum related to MBS, in some cases, is uncertain and deserves attention. We call the attention to MBS in some motor neuron disease, especially in Progressive Spinal Atrophy and Amyotrophic Lateral Sclerosis. [search.bvsalud.org]

Additionally, Valmikinathan et al. (1973) suggested that the pathophysiology of MMND might be associated with altered citrate metabolism. [frontiersin.org]

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]

Pathophysiology of motor dysfunction in a childhood motor neuron disease caused by mutations in the riboflavin transporter. Clin Neurophysiol. 2016;127:911-918. https://www.ncbi.nlm.nih.gov/pubmed/26092362 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]

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]