# Doença de Charcot-Marie-Tooth intermediária

> Página oficial: https://raras.org/doenca/doenca-de-charcot-marie-tooth-intermediaria
> Fonte: Raras.org — Banco de Dados de Doenças Raras em Português (CC BY-NC-SA 4.0)
> Última atualização: 2026-05-07

## Identificadores

- **ORPHA**: 476123 — https://www.orpha.net/en/disease/detail/476123
- **OMIM**: none — https://omim.org/entry/none

## Descrição clínica

A doença de Charcot-Marie-Tooth (CMT), também conhecida como Neuropatia Hereditária Motora e Sensorial (NHMS), é um distúrbio neurológico hereditário que afeta os nervos periféricos responsáveis por transmitir sinais entre o cérebro, a medula espinhal e o restante do corpo.

## Epidemiologia e herança


## Sinais e sintomas (124 fenótipos HPO)

- **Espasticidade** — HPO: HP:0001257
- **Aumento da concentração de proteína no LCR** — HPO: HP:0002922
- **Morfologia anormal da pupila** — HPO: HP:0000615
- **Fraqueza muscular** — HPO: HP:0001324
- **Hipertrofia do músculo esquelético** — HPO: HP:0003712
- **Dismielinização periférica** — HPO: HP:0003469
- **Fraqueza do músculo quadríceps** — HPO: HP:0003731
- **Quedas frequentes** — HPO: HP:0002359
- **Defeito ventilatório restritivo** — HPO: HP:0002091
- **Coordenação motora grossa pobre** — HPO: HP:0007015
- **Fraqueza da musculatura facial** — HPO: HP:0030319
- **Reflexo aquileu diminuído** — HPO: HP:0009072
- **Neuropatia axonal crônica** — HPO: HP:0007267
- **Hiporreflexia de membros superiores** — HPO: HP:0012391
- **Propriocepção distal prejudicada** — HPO: HP:0006858
- **Incapacidade de andar** — HPO: HP:0002540
- **Marcha instável** — HPO: HP:0002317
- **Talipes equinovarus bilateral** — HPO: HP:0001776
- **Hipotonia neonatal generalizada** — HPO: HP:0008935
- **Fraqueza muscular da cintura escapular** — HPO: HP:0003547
- **Contratura articular da mão** — HPO: HP:0009473
- **Anormalidade no EMG** — HPO: HP:0003457
- **Denervação do diafragma** — HPO: HP:0009109
- **Neuropatia periférica desmielinizante** — HPO: HP:0007108
- **Movimento limitado do punho** — HPO: HP:0006248
- **Velocidade de condução nervosa diminuída** — HPO: HP:0000762
- **Bloqueio de condução motora** — HPO: HP:0012078
- **Movimento interfalângico limitado** — HPO: HP:0006064
- **Coordenação motora fina pobre** — HPO: HP:0007010
- **Creatina quinase levemente elevada** — HPO: HP:0008180
- **Dificuldade para correr** — HPO: HP:0009046
- **Fraqueza muscular da mão** — HPO: HP:0030237
- **Atrofia do músculo tenar** — HPO: HP:0003393
- **Espasmo muscular** — HPO: HP:0003394
- **Disartria** — HPO: HP:0001260
- **Perda axonal** — HPO: HP:0003447
- **Proteinúria** — HPO: HP:0000093
- **Morfologia anormal do pé** — HPO: HP:0001760
- **Deformidade em mão em garra** — HPO: HP:0034337
- **Glomeruloesclerose segmentar focal** — HPO: HP:0000097
- _...e mais 84 sintomas. Ver https://raras.org/doenca/doenca-de-charcot-marie-tooth-intermediaria._

## Genes associados (11)

- **INF2** — Inverted formin-2 [Disease-causing germline mutation(s) in]
  - Função: Severs actin filaments and accelerates their polymerization and depolymerization
- **DNM2** — Dynamin-2 [Disease-causing germline mutation(s) in]
  - Função: Catalyzes the hydrolysis of GTP and utilizes this energy to mediate vesicle scission at plasma membrane during endocytosis and filament remodeling at many actin structures during organization of the a
- **KARS1** — Lysine--tRNA ligase [Disease-causing germline mutation(s) in]
  - Função: Catalyzes the specific attachment of an amino acid to its cognate tRNA in a 2 step reaction: the amino acid (AA) is first activated by ATP to form AA-AMP and then transferred to the acceptor end of th
- **NEFL** — Neurofilament light polypeptide [Disease-causing germline mutation(s) in]
  - Função: Neurofilaments usually contain three intermediate filament proteins: NEFL, NEFM, and NEFH which are involved in the maintenance of neuronal caliber. May additionally cooperate with the neuronal interm
- **COX6A1** — Cytochrome c oxidase subunit 6A1, mitochondrial [Disease-causing germline mutation(s) in]
  - Função: Component of the cytochrome c oxidase, the last enzyme in the mitochondrial electron transport chain which drives oxidative phosphorylation. The respiratory chain contains 3 multisubunit complexes suc
- **GBF1** — Golgi-specific brefeldin A-resistance guanine nucleotide exchange factor 1 [Disease-causing germline mutation(s) in]
  - Função: Guanine-nucleotide exchange factor (GEF) for members of the Arf family of small GTPases involved in trafficking in the early secretory pathway; its GEF activity initiates the coating of nascent vesicl
- **PLEKHG5** — Pleckstrin homology domain-containing family G member 5 [Disease-causing germline mutation(s) in]
  - Função: Functions as a guanine exchange factor (GEF) for RAB26 and thus regulates autophagy of synaptic vesicles in axon terminal of motoneurons (By similarity). Involved in the control of neuronal cell diffe
- **GDAP1** — Ganglioside-induced differentiation-associated protein 1 [Disease-causing germline mutation(s) in]
  - Função: Regulates the mitochondrial network by promoting mitochondrial fission
- **MPZ** — Myelin protein P0 [Disease-causing germline mutation(s) in]
  - Função: Is an adhesion molecule necessary for normal myelination in the peripheral nervous system. It mediates adhesion between adjacent myelin wraps and ultimately drives myelin compaction
- **YARS1** — Tyrosine--tRNA ligase, cytoplasmic [Disease-causing germline mutation(s) in]
  - Função: Tyrosine--tRNA ligase that catalyzes the attachment of tyrosine to tRNA(Tyr) in a two-step reaction: tyrosine is first activated by ATP to form Tyr-AMP and then transferred to the acceptor end of tRNA
- **GNB4** — Guanine nucleotide-binding protein subunit beta-4 [Disease-causing germline mutation(s) in]
  - Função: Guanine nucleotide-binding proteins (G proteins) are involved as a modulator or transducer in various transmembrane signaling systems. The beta and gamma chains are required for the GTPase activity, f

## Ensaios clínicos ativos (5)

- **NCT05742776** [RECRUITING]: The Relationship Between Ultrasonographic Findings and Sleep Quality in Carpal Tunnel Syndrome — https://clinicaltrials.gov/study/NCT05742776
- **NCT07408596** [COMPLETED]: "Ultrasound Measures and Clinical Outcomes in Healthy Individuals, Mild and Moderate Carpal Tunnel Syndrome Patients" — https://clinicaltrials.gov/study/NCT07408596
- **NCT07184073** [COMPLETED]: Cognitive Fraility and Biomarkers in Older Patients — https://clinicaltrials.gov/study/NCT07184073
- **NCT05464355** [ACTIVE_NOT_RECRUITING]: Biomarkers Associated With Postoperative Cognitive Dysfunction — https://clinicaltrials.gov/study/NCT05464355
- **NCT05852418** [RECRUITING]: Registry Study of Assistive Devices, Medicines and Healthcare Measures in ALS, SMA and Other Neurological Diseases. — https://clinicaltrials.gov/study/NCT05852418

## Doenças relacionadas (por similaridade fenotípica)

- [Doença de Charcot-Marie-Tooth tipo 4](https://raras.org/doenca/doenca-de-charcot-marie-tooth-tipo-4) — ORPHA:64749 — 89 sintomas em comum
- [Doença de Charcot-Marie-Tooth intermediária autossômica dominante](https://raras.org/doenca/doenca-de-charcot-marie-tooth-intermediaria-autossomica-dominante) — ORPHA:268337 — 77 sintomas em comum
- [Doença de Charcot-Marie-Tooth intermediária autossômica recessiva tipo A](https://raras.org/doenca/doenca-de-charcot-marie-tooth-intermediaria-autossomica-recessiva-tipo-a) — ORPHA:217055 — 71 sintomas em comum
- [Doença de Charcot-Marie-Tooth intermediária autossômica dominante](https://raras.org/doenca/doenca-de-charcot-marie-tooth-intermedia-autossomicadominante) — ORPHA:90114 — 69 sintomas em comum
- [Doença de Charcot-Marie-Tooth tipo 1](https://raras.org/doenca/doenca-de-charcot-marie-tooth-tipo-1) — ORPHA:65753 — 66 sintomas em comum
- [Doença de Charcot-Marie-Tooth tipo 4A](https://raras.org/doenca/doenca-de-charcot-marie-tooth-tipo-4a) — ORPHA:99948 — 54 sintomas em comum
- [Neuropatia motora hereditária distal autossômica dominante](https://raras.org/doenca/neuropatia-motora-hereditaria-distal-autossomica-dominante) — ORPHA:140465 — 51 sintomas em comum
- [Charcot-Marie-Tooth ligada ao X](https://raras.org/doenca/charcot-marie-tooth-ligada-ao-x) — ORPHA:64747 — 50 sintomas em comum
- [Miopatia distal autossômica dominante](https://raras.org/doenca/miopatia-distal-autossomica-dominante) — ORPHA:206650 — 50 sintomas em comum
- [Atrofia muscular espinhal proximal](https://raras.org/doenca/atrofia-muscular-espinhal-proximal) — ORPHA:70 — 48 sintomas em comum

## Importante

O Raras **não diagnostica e não prescreve**. Esta página é educativa e informativa.
Pacientes devem consultar profissionais de saúde qualificados para decisões clínicas.

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**Citação sugerida**: Raras.org — Doença de Charcot-Marie-Tooth intermediária. Disponível em: https://raras.org/doenca/doenca-de-charcot-marie-tooth-intermediaria
**Formato HTML**: https://raras.org/doenca/doenca-de-charcot-marie-tooth-intermediaria
**Formato RDF/Turtle**: https://raras.org/api/rdf?orpha=476123