Autosomal recessive Charcot-Marie-Tooth disease with hoarseness
Alternate names
ARCMT2K; Autosomal recessive axonal CMT4C4; Autosomal recessive axonal Charcot-Marie-Tooth disease type 2K; Charcot-Marie-Tooth disease, axonal, with vocal cord paresis ; CHARCOT-MARIE-TOOTH NEUROPATHY, AXONAL, WITH VOCAL CORD PARESIS, AUTOSOMAL RECESSIVE
Definition
A severe, early-onset form of axonal CMT peripheral sensorimotor polyneuropathy.
Epidemiology
ARCMT2K was originally described in three Spanish families and has since been described in five additional Spanish kindreds, as well as in families from Morocco, France and Poland.
Genetics
- ARCMT2K is caused by mutations in the GDAP1 gene (8q13.3), encoding a protein required for mitochondrial fission.
- Mutations in the same gene are associated with CMT4A and with a milder, later-onset autosomal dominant axonal form of CMT, CMT2K.
Signs and symptoms
- Onset occurs in the neonatal period or early infancy with a clinical picture similar to that seen in CMT4A (another autosomal recessive form of CMT4 but with a demyelinating phenotype) including hypotonia, scoliosis, a hoarse voice, vocal cord paralysis and respiratory insufficiency.
- However, nerve conduction velocities and pathological findings from sural nerve biopsies in ARCMT2K patients are indicative of a predominantly axonal neuropathy with some demyelinating features.
Diagnosis
Treatment
NIH genetic and rare disease info
Autosomal recessive Charcot-Marie-Tooth disease with hoarseness is a rare disease.
Resources
Frequently asked questions
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