Atlas of Neuromuscular Diseases A Practical Guideline - part 9 docx

... myopathy: Collagen VI Autosomal recessive: 2A: Calpain-3; 15q15 2B: Dysferlin; 2p12 2C: gamma-sarcoglycan; 13q12 2D: alpha-sarcoglycan; 17q21 2E: beta-sarcoglycan; 4q12 2F: delta-sarcoglycan; ... by certain distinc- tive clinical features: cardiac arrhythmia often requiring a pacemaker, limb and spine contractures, lack of facial weakness, and X-linked or autosomal dominant inheritance....

Ngày tải lên: 11/08/2014, 03:25

... procedures and treatments for PLS are currently identical to those for ALS. Most cases of ALS (at least 80%) are sporadic. A smaller number are attributable to autosomal dominant familial ALS (FALS). ... 241 Nervus auricularis magnus 90 Neuralgia of the laryngeal nerve 72 Neuralgic amyotrophy 97 Neuralgic Amyotrophy (HNA1) 99 Neuroepithelioma 243 Neurofibroma 243 Neurofibrosarcoma...

Ngày tải lên: 11/08/2014, 03:25

... nerve palsy caused by an intraneural cyst. J Neurol 2 49: 490 – 491 Sarrafian SK ( 199 3) Anatomy of the foot and ankle: descriptive, topographic, functional. Lippincott, Philadelphia Staal A, van Gijn ... entrapment Notalgia paresthetica: involvement of dorsal radicular branches Thoracic disc disease (rare) Neoplastic: Invasion at the apex of the lung Schwannoma Vertebral metastases...

Ngày tải lên: 10/08/2014, 18:20

... 19. Nemaline myopathy. A Distal leg atrophy in a patient with nemaline myopathy. B At- rophy of the proximal arm mus- cles, neck muscles, and weak- ness of the facial muscles. C Bi- lateral hand ... by certain distinc- tive clinical features: cardiac arrhythmia often requiring a pacemaker, limb and spine contractures, lack of facial weakness, and X-linked or autosomal dominant inh...

Ngày tải lên: 10/08/2014, 18:20

... muscle. General sensory: Face, scalp, conjunctiva, bulb of eye, mucous membranes of paranasal sinus, nasal and oral cavity, tongue, teeth, part of external aspect of tympanic mem- brane, meninges of anterior, ... well as mucous membranes of the nose and hard and soft palate. Skin of concha of auricle, small area of skin behind ear. Trigeminal nerve-V3 supplies the wall of...

Ngày tải lên: 10/08/2014, 18:20

... conditions Conservative: Trauma: neurapraxia, partial lesion (mild axonal lesion) Blunt trauma Neuralgic amyotrophy Malpositioning Operative: Trauma: severe axonal lesion, neurotmesis Generally good-partial lesions are common. Gorson ... the spinal canal. Each ramus passes through a pelvic sacral foramen to join the sacral plexus; each dorsal ramus emerges through a dorsal sacral foramen...

Ngày tải lên: 10/08/2014, 18:20

... degenera- tion. Some are associated with anti-neuronal antibodies. Peripheral neuro- pathies in cancer patients can also be part of a multifocal paraneoplastic encephalomyelitis (PEM). Demyelination ... NCV/EMG Laboratory Imaging Biopsy CSF+ ++ + Fig. 10. Dorsal root ganglion pa- thology: A and B show an exam- ple of an inflammatory paraneo- plastic ganglionitis. B shows an infiltra...

Ngày tải lên: 10/08/2014, 18:20

... muscle weakness, ataxia, and areflexia. Ptosis and mydriasis can be demonstrated on exam. MFS is considered a variant of AIDP, and cases initially appearing to fall in the classic MFS triad can progress ... oligoarthritis, cardiac impairment, and myositis can occur along- side a variety of CNS conditions in stage III disease. Demyelination and subacute encephalitis may be accompanied...

Ngày tải lên: 10/08/2014, 18:20

... in particular, rarely other tumors). Associated neurological conditions: Anti-Hu syndrome Ataxia Encephalopathy Paraneoplastic cerebellar degeneration Other autoimmune diseases LEMS (Lambert Eaton ... necessary – Carcinoma-associated: prognosis is related to the neoplasm Mason WP, Graus F, Lang B, et al ( 199 7) Small cell lung cancer, paraneoplastic cerebellar degeneration and the Lambert...

Ngày tải lên: 10/08/2014, 18:20

... association with thymoma and an antibody against the ryanodin receptor. In various types of myositis, antibodies like anti-Jo 1, anti-PL 7, anti-PL 12, anti-OJ, anti-EJ, anti-KS, and several others have been ... Russel U. A. Zifko 24 Other enzymes which can be affected in neuromuscular diseases are ami- notransferases, lactate dehydrogenase, aldolase, carbonic anhydrase-III, pyru- vate...

Ngày tải lên: 09/08/2014, 16:21