Late Onset of Severe Demyelinating Peripheral Neuropathy in a 62-Year-Old African American Woman.
J Clin Neuromuscul Dis
; 25(3): 152-156, 2024 Mar 01.
Article
en En
| MEDLINE
| ID: mdl-38441936
ABSTRACT
ABSTRACT Hereditary neuropathies are typically associated with an early onset of symptoms, but same types of neuropathies may also manifest late, after the age 50 years. A 62-year-old African American woman presented with a 6-year history of gait unsteadiness and has been using a walker since the age 57 years after an unwitnessed fall. Gradual worsening of walking difficulties was later followed by decreased dexterity. The family history was negative for neuromuscular disorders, including neuropathy. On examination, the patient had both distal and proximal weakness with distal sensory loss to all modalities and hyporeflexia. Charcot Marie Tooth Examination Score was 12. Previous electrodiagnostic testing at the age 60 years showed severe sensorimotor demyelinating polyneuropathy with bilateral severe carpal tunnel syndrome. Genetic testing showed a homozygous pathogenic mutation in SH3TC2 gene (c.2860C>T; p.Arg954*), associated with CMT4C. CMT4C is the most common recessive demyelinating sensorimotor polyneuropathy and overall comprises 0.4%-1.7% of all patients with Charcot-Marie-Tooth disease. It is more common in French Canadians and Spanish Roma and in recent natural history study; only 1 of 56 patients was African American. This report demonstrates sporadic occurrence of CMT4C in other ethnic groups as well.
Texto completo:
1
Colección:
01-internacional
Base de datos:
MEDLINE
Asunto principal:
Síndrome del Túnel Carpiano
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Enfermedad de Charcot-Marie-Tooth
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Pueblos de América del Norte
Límite:
Female
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Humans
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Middle aged
Idioma:
En
Revista:
J Clin Neuromuscul Dis
Asunto de la revista:
FISIOLOGIA
/
NEUROLOGIA
Año:
2024
Tipo del documento:
Article