Charcot-Marie-Tooth disease axonal type 2T
Summary
Available tests
Check Related conditions for additional relevant tests.
Clinical tests (14 available)
Genes See tests for all associated and related genes
Also known as: CALLA, CD10, CMT2T, NEP, SCA43, SFE, MME
Summary: membrane metalloendopeptidase
Clinical features
Help- Abnormality of limbs
- Distal lower limb muscle weakness
Distal lower limb muscle weakness
- MedGen UID: 324514
- Concept ID: C1836450
- Finding: Finding
Abnormality of limbs
- Foot dorsiflexor weakness
Foot dorsiflexor weakness
- MedGen UID: 356163
- Concept ID: C1866141
- Finding: Finding
Abnormality of limbs
- Distal lower limb muscle weakness
- Abnormality of the musculoskeletal system
- Distal lower limb amyotrophy
Distal lower limb amyotrophy
- MedGen UID: 324515
- Concept ID: C1836451
- Finding: Disease or Syndrome
Abnormality of the musculoskeletal system
- Distal lower limb amyotrophy
- Abnormality of the nervous system
- Areflexia
Areflexia
- MedGen UID: 115943
- Concept ID: C0234146
- Finding: Finding
Abnormality of the nervous system
- Dementia
Dementia
- MedGen UID: 99229
- Concept ID: C0497327
- Finding: Mental or Behavioral Dysfunction
Abnormality of the nervous system
- Distal sensory impairment
Distal sensory impairment
- MedGen UID: 335722
- Concept ID: C1847584
- Finding: Finding
Abnormality of the nervous system
- Hyporeflexia
Hyporeflexia
- MedGen UID: 195967
- Concept ID: C0700078
- Finding: Finding
Abnormality of the nervous system
- Sensorimotor neuropathy
Sensorimotor neuropathy
- MedGen UID: 207266
- Concept ID: C1112256
- Finding: Disease or Syndrome
Abnormality of the nervous system
- Unsteady gait
Unsteady gait
- MedGen UID: 68544
- Concept ID: C0231686
- Finding: Finding
Abnormality of the nervous system
- Areflexia
IMPORTANT NOTE: NIH does not independently verify information submitted to the GTR; it relies on submitters to provide information that is accurate and not misleading. NIH makes no endorsements of tests or laboratories listed in the GTR. GTR is not a substitute for medical advice. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.