charcot-marie-tooth disease

Thân thiện

A child with Charcot-Marie-Tooth disease uses a walker to move across a room.

Definition

1. Noun:
   • A form of neuropathy: Charcot-Marie-Tooth disease is a hereditary neurological disorder that affects the peripheral nerves.
   • Characterized by specific symptoms: It is marked by progressive weakness and wasting (atrophy) of the muscles in the hands and lower legs.
   • Typical onset and progression: Symptoms often begin between childhood and young adulthood, with a slow progression. Affected individuals typically have a normal life span.
   • Genetic inheritance: The condition is inherited, most commonly in an X-linked pattern (either recessive or dominant).

Usage Examples

• Noun:
  • The diagnosis of Charcot-Marie-Tooth disease explained his lifelong difficulty with fine motor skills.
  • Research into Charcot-Marie-Tooth disease focuses on finding treatments to slow nerve degeneration.
  • Despite having Charcot-Marie-Tooth disease, she leads an active and fulfilling life.

Advanced Usage

• Medical Context: The term is used precisely in clinical neurology and genetics to describe this specific hereditary motor and sensory neuropathy (HMSN).
  • The patient's family history was consistent with an X-linked dominant form of Charcot-Marie-Tooth disease.

Variants and Related Words

• CMT: A common abbreviation for Charcot-Marie-Tooth disease.
  • Genetic testing confirmed a diagnosis of CMT type 1A.
• Hereditary Motor and Sensory Neuropathy (HMSN): An alternative medical name for the same group of disorders.
  • Charcot-Marie-Tooth disease is the most common form of hereditary motor and sensory neuropathy.

Synonyms

• Peroneal Muscular Atrophy: An older, descriptive name for the condition, referencing the atrophy of muscles in the lower legs.
• Hereditary Neuropathy: A broader term under which Charcot-Marie-Tooth disease is categorized.

Notes on Usage

• The term is always used as a proper noun and is typically hyphenated: Charcot-Marie-Tooth disease. It is named after the three physicians who first described it.
• It refers to a group of related disorders, not a single condition, which is why types (e.g., CMT1, CMT2) are often specified.

Học thuật

Noun

1. a form of neuropathy that can begin between childhood and young adulthood; characterized by weakness and atrophy of the muscles of the hands and lower legs; progression is slow and individuals affected can have a normal life span; inheritance is X-linked recessive or X-linked dominant

Từ đồng nghĩa

• Charcot-Marie-Tooth disease
• hereditary motor and sensory neuropathy