Diseases of the nervous system
Polyneuropathies and other disorders of the peripheral nervous system
Autosomal recessive
19q13.2
Charcot-Marie-Tooth disease is characterised by distal muscle weakness and severe sensory loss. Histopathological examinations of affected individuals often find severely depleted myelinated fibres and the presence of multiple small onion bulbs. The disease is associated with mutations in the PRX gene, which encodes a protein responsible for maintaining neuron-Schwann cell interaction and myelin sheath integrity.
| Subject ID | Country | Sex | Family History | Parental Consanguinity | HPO Terms | Variant | Zygosity | Mode of Inheritance | Reference | Remarks |
|---|---|---|---|---|---|---|---|---|---|---|
| 614895.1.1 | Algeria | Male | Yes | Yes | Unsteady gait; Kyphoscoliosis; Pes c... Unsteady gait; Kyphoscoliosis; Pes cavus; Distal muscle weakness; Distal amyotrophy; Sensory ataxia  | NM_181882.2:c.1090C>T | Homozygous | Autosomal, Recessive | Nouioua et al. 2011 | |
| 614895.1.2 | Algeria | Male | Yes | Yes | Unsteady gait; Kyphoscoliosis; Pes... Unsteady gait; Kyphoscoliosis; Pes cavus; Distal muscle weakness; Distal amyotrophy; Sensory ataxia | NM_181882.2:c.1090C>T | Homozygous | Autosomal, Recessive | Nouioua et al. 2011 | Brother of 614895.1.... |
| 614895.1.3 | Algeria | Male | Yes | Yes | Unsteady gait; Kyphoscoliosis; P... Unsteady gait; Kyphoscoliosis; Pes cavus; Distal muscle weakness; Distal amyotrophy; Sensory ataxia | NM_181882.2:c.1090C>T | Homozygous | Autosomal, Recessive | Nouioua et al. 2011 | Brother of 614895.1.... |
| 614895.1.4 | Algeria | Female | Yes | Yes | Unsteady gait; Kyphoscoliosis; ... Unsteady gait; Kyphoscoliosis; Pes cavus; Distal muscle weakness; Distal amyotrophy; Sensory ataxia | NM_181882.2:c.1090C>T | Homozygous | Autosomal, Recessive | Nouioua et al. 2011 | Sister of 614895.1.1 |
| 614895.2.1 | Lebanon | Male | Yes | Yes | Distal muscle weakness; Kyphoscolios... Distal muscle weakness; Kyphoscoliosis; Pes cavus; Delayed gross motor development; Steppage gait; Decreased number of peripheral myelinated nerve fibers; Onion bulb formation | NM_181882.2:c.586C>T | Homozygous | Autosomal, Recessive | Delague et al. 2000; Guilbot et al. 2001 | |
| 614895.2.2 | Lebanon | Male | Yes | Yes | Distal muscle weakness; Kyphoscolio... Distal muscle weakness; Kyphoscoliosis; Pes cavus; Delayed gross motor development; Steppage gait; Decreased number of peripheral myelinated nerve fibers; Onion bulb formation | NM_181882.2:c.586C>T | Homozygous | Autosomal, Recessive | Delague et al. 2000; Guilbot et al. 2001 | Brother of 614895.2.... |
| 614895.2.3 | Lebanon | Male | Yes | Yes | Distal muscle weakness; Kyphoscoli... Distal muscle weakness; Kyphoscoliosis; Pes cavus; Delayed gross motor development; Steppage gait; Decreased number of peripheral myelinated nerve fibers; Onion bulb formation | NM_181882.2:c.586C>T | Homozygous | Autosomal, Recessive | Delague et al. 2000; Guilbot et al. 2001 | Brother of 614895.2.... |
| 614895.2.4 | Lebanon | Female | Yes | Yes | Distal muscle weakness; Kyphoscol... Distal muscle weakness; Kyphoscoliosis; Pes cavus; Delayed gross motor development; Steppage gait; Decreased number of peripheral myelinated nerve fibers; Onion bulb formation | NM_181882.2:c.586C>T | Homozygous | Autosomal, Recessive | Delague et al. 2000; Guilbot et al. 2001 | Sister of 614895.2.1 |
| 614895.2.5 | Lebanon | Female | Yes | Yes | Distal muscle weakness; Kyphosco... Distal muscle weakness; Kyphoscoliosis; Pes cavus; Delayed gross motor development; Steppage gait; Decreased number of peripheral myelinated nerve fibers; Onion bulb formation | NM_181882.2:c.586C>T | Homozygous | Autosomal, Recessive | Delague et al. 2000; Guilbot et al. 2001 | Sister of 614895.2.1 |
| 614895.2.6 | Lebanon | Male | Yes | Yes | Distal muscle weakness; Kyphoscoli... Distal muscle weakness; Kyphoscoliosis; Pes cavus; Delayed gross motor development; Steppage gait; Decreased number of peripheral myelinated nerve fibers; Onion bulb formation | NM_181882.2:c.586C>T | Homozygous | Autosomal, Recessive | Delague et al. 2000; Guilbot et al. 2001 | Second degree relati... |
| 614895.2.7 | Lebanon | Female | Yes | Yes | Distal muscle weakness; Kyphoscoli... Distal muscle weakness; Kyphoscoliosis; Pes cavus; Delayed gross motor development; Steppage gait; Decreased number of peripheral myelinated nerve fibers; Onion bulb formation | NM_181882.2:c.586C>T | Homozygous | Autosomal, Recessive | Delague et al. 2000; Guilbot et al. 2001 | Second degree relati... |
| 614895.2.8 | Lebanon | Male | Yes | Yes | Distal muscle weakness; Kyphoscoli... Distal muscle weakness; Kyphoscoliosis; Pes cavus; Delayed gross motor development; Steppage gait; Decreased number of peripheral myelinated nerve fibers; Onion bulb formation | NM_181882.2:c.586C>T | Homozygous | Autosomal, Recessive | Delague et al. 2000; Guilbot et al. 2001 | Second degree relati... |
| 614895.3.1 | Egypt | Male | Yes | Yes | Intellectual disability; Global developm... Intellectual disability; Global developmental delay; Hyperactivity; Hypotonia; Seizure; Hypoplasia of the corpus callosum | NM_181882.3:c.3099del | Homozygous | Autosomal, Recessive | Makrythanasis et al. 2014 | |
| 614895.3.2 | Egypt | Female | Yes | Yes | Intellectual disability; Global developm... Intellectual disability; Global developmental delay; Hyperactivity; Hypotonia; Seizure; Hypoplasia of the corpus callosum | NM_181882.3:c.3099del | Homozygous | Autosomal, Recessive | Makrythanasis et al. 2014 | Sister of 614895.3.1 |