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]

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]

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]

(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]

of the tongue and weakness of tongue, which can contribute to swallowing difficulties. [rarediseases.org]

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]

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]

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]

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]

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 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]

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]