Farah Mushtaq, Sheikh Mushtaq Ahmad, Surinder Kaur, Surjit Singh, LS Dashora
International Journal of Clinical and Experimental Physiology 2016 3(3):147-148
Spinal muscular atrophy (SMA) is a genetic motor neuron disease characterized by progressive degeneration of motor neurons. Herein, a 12-year-old female child, born to healthy nonconsanguineous parents, was brought with the chief complaints of wasting and weakness of both lower limbs for 3 years. There was no family history of neurological illness. On examination, higher mental functions and cranial nerve examinations were normal. Typical worm-like fasciculations were seen in tongue and both lower limbs. Upper extremities were less affected. The child was able to feed herself. Respiratory muscles were not affected. A diagnosis of SMA-Type 3 (Kugelberg–Welander disease) was made on the basis of clinical presentation and subsequently, the diagnosis was genetically confirmed by molecular analysis of SMN gene. Electromyography showed spontaneous fibrillation at rest. Nerve conduction study was normal. No medical treatment was able to delay the progression. Supportive therapy includes orthopedic care and mild physiotherapy.
from #AlexandrosSfakianakis via Alexandros G.Sfakianakis on Inoreader http://ift.tt/2dzyVRu
via IFTTT
Εγγραφή σε:
Σχόλια ανάρτησης (Atom)
Δημοφιλείς αναρτήσεις
-
Publication date: Available online 4 January 2018 Source: European Journal of Radiology Author(s): Peiyao Zhang, Jing Wang, Qin Xu, Zhen...
-
Background Hyperthyroidism is associated with increased thrombotic risk. As contact system activation through formation of neutrophil extrac...
-
Dtsch med Wochenschr DOI: 10.1055/s-0043-100054 Hintergrund und Fragestellung Ein etablierter Weg, die optimale Behandlung von Tumorpatien...
-
Publication date: March 2017 Source: Free Radical Biology and Medicine, Volume 104 from #AlexandrosSfakianakis via Alexandros G.Sfak...
-
Related Articles Anatomic parameters of the sacral lamina for osteosynthesis in transverse sacral fractures. Surg Radiol Anat....
-
Medicine by Alexandros G. Sfakianakis,Anapafseos 5... Medicine by Alexandros G. Sfakianakis,Anapafseos 5... Heralding change: The evolution ...
-
BACKGROUND AND PURPOSE: Dengue is a common arboviral disease, which uncommonly involves the brain. There has been a recent surge in dengu...
-
Purpose. We present a case of a patient with Soemmering ring after cataract surgery and a potential complication that can arise as a result ...
-
Abstract Purpose Investigate in patients with metastatic and/or irresectable colorectal cancer treated with systemic treatment with cape...
Δεν υπάρχουν σχόλια:
Δημοσίευση σχολίου