China
Africa
Explore chapters and articles related to this topic
Neurological Disease
Published in John S. Axford, Chris A. O'Callaghan, Medicine for Finals and Beyond, 2023
Peripheral neuropathy is a dysfunction of lower motor neurones or sensory neurones or both. Hereditary motor and sensory neuropathy (HMSN) has at least 76 recognized genetic causes, which may be autosomal dominant or recessive, or X-linked. Some are due to genes integral to normal nerve function while others may be secondary to metabolic disturbance.
The cavovarus foot
Published in Maneesh Bhatia, Essentials of Foot and Ankle Surgery, 2021
The commonest neurological cause of the cavus foot is hereditary motor and sensory neuropathy (HMSN), of which Charcot-Marie-Tooth (CMT) disease is the most common. However, neurological conditions can affect any level of the central or peripheral nervous system that controls the muscle power. This necessitates a thorough examination of the spinal and neurological system in patients with cavus feet.
Neurological and neuromuscular disorders of the larynx
Published in Declan Costello, Guri Sandhu, Practical Laryngology, 2015
Hereditary motor and sensory neuropathy (HMSN), also known as Charcot–Marie–Tooth neuropathy or peroneal muscular atrophy, is a genetic disorder that has weakness and sensory loss in the distal limbs as its most prominent features. It accounts for 80–90% of all genetic neuropathies, which in turn make up about 20% of all neuropathies. In the United States, this amounts to an incidence of 42 per 100,000, or more than 250,000 cases.89 It is more prevalent than myasthenia gravis. Most forms are inherited in an autosomal dominant manner. Typically, the disease begins to manifest in the first or second decade and progresses slowly. In general, life expectancy is not markedly diminished, with the important exception of patients with HMSN type 2C. This is attributed to aspiration and respiratory complications from laryngeal abnormalities.90,91
Hereditary motor and sensory neuropathy type VIA with optic nerve pallor in two sisters with pathologic myopia: a case series and review
Published in Ophthalmic Genetics, 2023
Kevin Babu, Kimberly Seamon, Ann Jewell, Anna Harrison, Amy Harper, Hind Al Saif, Natario Couser
Hereditary motor and sensory neuropathy type VIA with optic atrophy (HMSN6A) is a neurologic disorder characterized by a motor and panmodal (involving all classes of sensory neurons) axonal neuropathy and optic atrophy; multiple inheritance patterns have been reported (1). Autosomal dominant HMSN6A results from a heterozygous variant in the mitofusin 2 (MFN2) gene on chromosome 1p36. The conserved MFN2 gene is involved in mitochondrial fusion, structure, and distribution (2). Located in the outer mitochondrial membrane, MFN2 plays an important role in mitochondrial mobility and mitochondrial fusion reactions. MFN2 derangements have been shown to affect axonal health.