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Items: 4

1.

Decreased number of peripheral myelinated nerve fibers

A loss of myelinated nerve fibers in the peripheral nervous system (in general, this finding can be observed on nerve biopsy). [from HPO]

MedGen UID:
505527
Concept ID:
CN003050
Finding
2.

Distal hereditary motor neuronopathy type 1

Distal hereditary motor neuronopathy (dHMN or HMN) is a heterogeneous group of neuromuscular disorders caused by anterior horn cell degeneration and characterized by progressive distal motor weakness and muscular atrophy of the peripheral nervous system without sensory impairment. Distal HMN is also referred to as spinal Charcot-Marie-Tooth disease (spinal CMT). Distal HMN is often referred to as a 'neuronopathy' instead of a 'neuropathy' based on the hypothesis that the primary pathologic process resides in the neuron cell body and not in the axons (Irobi et al., 2006). Genetic Heterogeneity of Autosomal Dominant Distal Hereditary Motor Neuronopathy Harding (1993) proposed a classification of distal HMN into 7 phenotypic subtypes according to age at onset, mode of inheritance, and presence of additional features. Those that show autosomal dominant inheritance include distal HMN type I, and II (HMN2A, 158590 and HMN2B, 608634), characterized by juvenile and adult onset, respectively; HMN type V (HMN5A, 600794 and HMN5B, 614751), characterized by upper limb involvement; HMN VII (HMN7A, 158580 and HMN7B, 607641), with vocal cord paralysis; and HMN8 (600175). HMN2A is caused by mutation in the HSPB8 gene (608014), HMN2B by mutation in the HSPB1 gene (602195), HMN2C (613376) by mutation in the HSPB3 gene (604624), and HMN2D (615575) by mutation in the FBXO38 gene (608533). HMN5A is caused by mutation in the GARS gene (600287) and HMN5B is caused by mutation in the REEP1 gene (609139). HMN7A is caused by mutation in the SLC5A7 gene (608761). HMN7B is caused by mutation in the DCTN1 gene (601143). HMN8 is caused by mutation in the TRPV4 gene (605427). See also autosomal dominant ALS4 (602433) and congenital autosomal dominant distal SMA (600175). Genetic Heterogeneity of Autosomal Recessive Distal Hereditary Motor Neuronopathy (Distal Spinal Muscular Atrophy) Harding (1993) classified autosomal recessive distal hereditary motor neuronopathy as dHMN IV (HMN4) and dHMN III (HMN3) (see DSMA3; 607088). HMN has also been referred to as distal spinal muscular atrophy (DSMA). 'Distal' SMA is distinguished from 'proximal' autosomal recessive spinal muscular atrophy (SMA, 253300) by the primary muscles involved. DSMA here refers to the autosomal recessive forms of HMN. See DSMA1 (SMARD1; 604320), caused by mutation in the IGHMBP2 gene (600502); DSMA2 (605726), caused by mutation in the SIGMAR1 gene (601978) on chromosome 9p13; DSMA3 (607088), encompassing HMN types III and IV, which maps to chromosome 11q13; DSMA4 (611067), caused by mutation in the PLEKHG5 gene (611101); and DSMA5 (614881), caused by mutation in the DNAJB2 gene (604139). See also X-linked SMAX3 (300489). [from OMIM]

MedGen UID:
356618
Concept ID:
C1866784
Disease or Syndrome
3.

Motor deterioration

Loss of previously present motor (i.e., movement) abilities. [from HPO]

MedGen UID:
356495
Concept ID:
C1866284
Finding
4.

Decreased number of large and small myelinated fibers

A loss of myelinated nerve fibers in the peripheral nervous system (in general, this finding can be observed on nerve biopsy). [from HPO]

MedGen UID:
346872
Concept ID:
C1858285
Finding
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