Distal hereditary motor neuropathy, type II
Ultimo aggiornamento 4 Mar 2025
Rispetta le linee guida editoriali
- ScaricaScarica
- Condividi
- Language
- Discussione
- Versione audio
- Aggiungi alle fonti preferite su Google
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.
Descrizione
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
Modelli di ereditarietà
The source lists the following possible inheritance patterns: Autosomal dominant. More than one pattern can apply in different cases.
Related genes
Altri nomi
Distal hereditary motor neuronopathy, type II
HMN II
HMN2
HMND2
Related patient information and medicines
Patient information leaflet
Neuropatia periferica
Peripheral neuropathy means damage to one or more of your peripheral nerves. The damage means that the messages that travel between your central and peripheral nervous system are disrupted. If motor nerves are damaged, this is known as motor neuropathy. Hereditary diseases Certain diseases that you can inherit from your parents can cause.
Patient information leaflet
Distrofia muscolare
Non ci sono different types of muscular dystrophy, which vary as to how severe they are, ranging from very mild to severe. Types of muscular dystrophy Duchenne muscular dystrophy (DMD) distrofia muscolare di Duchenne (DMD) is the most common and most severe type di MD. In the US, a la terapia genica treatment for Duchenne's called Elevidys® was approved for.
Patient information leaflet
Disordini di accumulo di glicogeno
Disordini di accumulo di glicogeno are a group of inherited diseases. They result from a problem with one of the proteins (known as enzymes) involved in the conversion of glucose to glycogen, or the breakdown of glycogen back into glucose. They mostly tend to affect your liver and muscles. Most people with a glycogen storage disorder respond well to.
Patient information leaflet
Cure di fine vita
End of life care is a term used to cover the issues you need to think about and plan for, when you are approaching death. In September 2021 the National Institute for Health and Care Excellence (NICE) issued new quality standards about what everyone should be able to expect from end of life care. This leaflet deals with adv... For example, a.
Patient information leaflet
Malattia del motoneurone
Malattia del motoneurone (MND) is a neurological condition causes a progressive weakness e wasting of many of the muscles in the body. There are various types of motor neurone disease. This leaflet is mainly about amyotrophic lateral sclerosis (ALS), which is the most common type of motor neurone disease. Although there is no cure for motor neurone.
Patient information leaflet
Rilassanti muscolari
When are muscle relaxants prescribed. Muscle relaxants are used to relieve muscle spasms which may result from some conditions which affect the nervous system, such as: Multiple sclerosis. Malattia del motoneurone. Paralisi cerebrale. Motor neurone disease Baclofen, tizanidine, dantrolene, e gabapentin are sometimes used for muscle stiffness or.
Ulteriori letture e riferimenti
- 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.
Partecipa alla conversazione
Condividi i tuoi pensieri o esperienze con gli altri nel nostro comunità di pazienti.
Chiedi, condividi, connettiti.
Esplora le discussioni, fai domande e condividi esperienze su centinaia di argomenti di salute.
Iscriviti alla newsletter di Patient
La tua dose settimanale di consigli sulla salute chiari e affidabili - scritti per aiutarti a sentirti informato, sicuro e in controllo.
Abbonandoti accetti i nostri Informativa sulla Privacy. Puoi annullare l'iscrizione in qualsiasi momento. Non vendiamo mai i tuoi dati.