Gene/Protein Disease Symptom Drug Enzyme Compound
Pivot Concepts:   Target Concepts:
Query: UMLS:C0013362 (dysarthria)
 3,768 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

First reported in 1972 by Berg & colleagues, giant axonal neuropathy is a generalized disorder of cytoplasmic intermediate filaments affecting the nervous system particularly. The condition was originally thought to be a disorder of the peripheral nervous system, but clinical and pathological evidence has now accumulated which indicates that the brain and spinal cord are progressively involved. Over 20 cases have been reported to date. All cases reported have developed clumsiness and progressive weakness with hyporeflexia in the first seven years of life. Later dysarthria, cerebellar signs and pyramidal tract disturbances appear. Mental retardation, dementia and seizures are sometimes seen. Tightly curled hair is characteristic of, but not invariably present in, the condition. This disorder, as well as a similar condition affecting dogs, appears to be transmitted by autosomal recessive inheritance. No treatment is effective. Most cases are wheelchair bound or dead by the end of the second decade.
 ...
PMID:Giant axonal neuropathy. A review. 254 97

Giant axonal neuropathy is a rare autosomal recessive childhood disorder characterized by a peripheral neuropathy and features of central nervous system involvement. We describe four patients belonging to a consanguineous Algerian family with late onset (6-10 years) slowly progressive autosomal recessive giant axonal neuropathy. The propositus presented with a Charcot-Marie-Tooth 2-like phenotype with foot deformity, distal amyotrophy of lower limbs, areflexia and distal lower limb hypoesthesia. Central nervous system involvement occurred 10 years later with mild cerebellar dysarthria and nystagmus in the propositus and 16 years after onset, a spastic paraplegia in the oldest patient. The two youngest patients (13 and 8 years old) do not present any signs of central nervous involvement. Magnetic resonance imaging showed cerebellar atrophy in the two older. Nerve biopsy showed moderate axonal loss with several giant axons filled with neurofilaments. Genetic study established a linkage to chromosome 16q locus. This clinical presentation differs from the classical form of giant axonal neuropathy.
 ...
PMID:Charcot-Marie-Tooth 2-like presentation of an Algerian family with giant axonal neuropathy. 1105 87