Distal hereditary motor neuropathy, type II
Última actualización 4 de marzo de 2025
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Distal hereditary motor neuropathy, type II is a progressive disorder that affects nerve cells (neurons) in the brain and spinal cord. This condition specifically affects motor neurons, which are specialized cells that control muscle movement. Damage to motor neurons results in muscle weakness that worsens over time. Distal hereditary motor neuropathy, type II weakness primarily affects movement in the legs.
Descripción
Distal hereditary motor neuropathy, type II is a progressive disorder that affects nerve cells (neurons) in the brain and spinal cord. This condition specifically affects motor neurons, which are specialized cells that control muscle movement. Damage to motor neurons results in muscle weakness that worsens over time. Distal hereditary motor neuropathy, type II weakness primarily affects movement in the legs.
The signs and symptoms of distal hereditary motor neuropathy, type II often begin in adolescence to mid-adulthood. The initial symptoms of the disorder are cramps or weakness in the muscles of the big toe and, later, the entire foot. During the next 5 to 10 years, affected individuals experience a gradual loss of muscle tissue (atrophy) in the lower legs, which can lead to problems with walking (gait disturbance) and high arches (pes cavus). Over time, the lower legs may become paralyzed. The thigh muscles may also undergo muscle atrophy, although this generally occurs later and is less severe than the muscle atrophy in the lower legs.
Some individuals with distal hereditary motor neuropathy, type II can also experience weaken the muscles in the hands and forearms. This weakening is less severe than the weakening in the lower limbs and does not usually lead to paralysis. In rare cases, affected individuals experience hearing loss.
People with distal hereditary motor neuropathy, type II can have exaggerated reflexes (hyperreflexia) or other minor disturbances in the nerves used to detect sensations (sensory neuropathy). Sensory neuropathy is uncommon in people with distal hereditary motor neuropathy, type II and is typically a feature of a disorder calledCharcot-Marie-Tooth disease. These two disorders have overlapping features and can also share a genetic
Patrones de herencia
The source lists the following possible inheritance patterns: Autosomal dominant. More than one pattern can apply in different cases.
Related genes
Otros nombres
Distal hereditary motor neuronopathy, type II
HMN II
HMN2
HMND2
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Lecturas adicionales y referencias
- Distal hereditary motor neuropathy, type II; MedlinePlus, National Library of Medicine.
- Benquey T, Pion E, Cossee M, Krahn M, Stojkovic T, Perrin A, Cerino M, Molon A, Lia AS, Magdelaine C, Francou B, Guiochon-Mantel A, Malinge MC, Leguern E, Levy N, Attarian S, Latour P, Bonello-Palot N. A National French Consensus on Gene List for the Diagnosis of Charcot-Marie-Tooth Disease and Related Disorders Using Next-Generation Sequencing. Genes (Basel). 2022 Feb 9;13(2):318. doi: 10.3390/genes13020318.
- Frasquet M, Rojas-Garcia R, Argente-Escrig H, Vazquez-Costa JF, Muelas N, Vilchez JJ, Sivera R, Millet E, Barreiro M, Diaz-Manera J, Turon-Sans J, Cortes-Vicente E, Querol L, Ramirez-Jimenez L, Martinez-Rubio D, Sanchez-Monteagudo A, Espinos C, Sevilla T, Lupo V. Distal hereditary motor neuropathies: Mutation spectrum and genotype-phenotype correlation. Eur J Neurol. 2021 Apr;28(4):1334-1343. doi: 10.1111/ene.14700. Epub 2021 Jan 10.
- Hu Z, Chen L, Zhang J, Li T, Tang J, Xu N, Wang X. Structure, function, property, and role in neurologic diseases and other diseases of the sHsp22. J Neurosci Res. 2007 Aug 1;85(10):2071-9. doi: 10.1002/jnr.21231.
- Irobi J, Van Impe K, Seeman P, Jordanova A, Dierick I, Verpoorten N, Michalik A, De Vriendt E, Jacobs A, Van Gerwen V, Vennekens K, Mazanec R, Tournev I, Hilton-Jones D, Talbot K, Kremensky I, Van Den Bosch L, Robberecht W, Van Vandekerckhove J, Van Broeckhoven C, Gettemans J, De Jonghe P, Timmerman V. Hot-spot residue in small heat-shock protein 22 causes distal motor neuropathy. Nat Genet. 2004 Jun;36(6):597-601. doi: 10.1038/ng1328. Epub 2004 May 2.
- Shen X, Zhang J, Zhan F, Tian W, Jiang Q, Luan X, Zhang X, Cao L. Heterogeneous Clinical Phenotypes of dHMN Caused by Mutation in HSPB1 Gene: A Case Series. Biomolecules. 2022 Sep 27;12(10):1382. doi: 10.3390/biom12101382.
- Tazir M, Nouioua S. Distal hereditary motor neuropathies. Rev Neurol (Paris). 2024 Dec;180(10):1031-1036. doi: 10.1016/j.neurol.2023.09.005. Epub 2024 May 3.
- Tedesco B, Cristofani R, Ferrari V, Cozzi M, Rusmini P, Casarotto E, Chierichetti M, Mina F, Galbiati M, Piccolella M, Crippa V, Poletti A. Insights on Human Small Heat Shock Proteins and Their Alterations in Diseases. Front Mol Biosci. 2022 Feb 25;9:842149. doi: 10.3389/fmolb.2022.842149. eCollection 2022.
- Xie Y, Lin Z, Pakhrin PS, Li X, Wang B, Liu L, Huang S, Zhao H, Cao W, Hu Z, Guo J, Shen L, Tang B, Zhang R. Genetic and Clinical Features in 24 Chinese Distal Hereditary Motor Neuropathy Families. Front Neurol. 2020 Dec 14;11:603003. doi: 10.3389/fneur.2020.603003. eCollection 2020.
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