Мы используем файлы cookie.
Продолжая использовать сайт, вы даете свое согласие на работу с этими файлами.
Motor neuron disease
Distal hereditary motor neuronopathies
Другие языки:

    Distal hereditary motor neuronopathies

    Подписчиков: 0, рейтинг: 0

    Distal hereditary motor neuronopathies (distal HMN, dHMN), sometimes also called distal hereditary motor neuropathies, are a genetically and clinically heterogeneous group of motor neuron diseases that result from genetic mutations in various genes and are characterized by degeneration and loss of motor neuron cells in the anterior horn of the spinal cord and subsequent muscle atrophy.

    Although they can hardly be distinguished from hereditary motor and sensory neuropathies on the clinical level, dHMNs are considered a separate class of disorders.

    Another common system of classification groups many of DHMNs under the heading of spinal muscular atrophies.

    Classification

    In 1993, A. E. Hardnig proposed to classify hereditary motor neuropathies into seven groups based on age at onset, mode of inheritance, and presence of additional features. This initial classification has since been widely adopted and expanded and currently looks as follows:

    Type OMIM Gene Locus Inheritance Common names and characteristics
    DHMN1 182960 ? 7q34–q36 Autosomal dominant Autosomal dominant juvenile distal spinal muscular atrophy
    Juvenile onset
    DHMN2A 158590 HSPB8 12q24.23 Autosomal dominant Autosomal dominant distal spinal muscular atrophy
    Adult onset. Allelic with Charcot–Marie–Tooth disease type 2F
    DHMN2B 608634 HSPB1 7q11.23 Autosomal dominant Adult onset
    DHMN2C 613376 HSPB3 5q11.2 Autosomal dominant
    DHMN2D 615575 FBXO38 5q32 Autosomal dominant Distal spinal muscular atrophy with calf predominance
    Juvenile or adult onset, slowly progressive, affects both proximal and distal muscles, initially manifests with calf weakness which progresses to hands
    DHMN3
    DHMN4         		607088 ? 11q13 Autosomal recessive Distal spinal muscular atrophy type 3
    DHMN3 – benign form: early adult onset, slowly progressive, no diaphragmatic paralysis
    DHMN4 – severe form: juvenile onset with diaphragmatic paralysis
    DHMN5A 600794 GARS 7p14.3 Autosomal dominant Distal spinal muscular atrophy type VA
    Upper limb predominance with spasticity of lower limbs
    Locus and phenotype overlapping with CMT-2D and SPG-17
    DHMN5B 614751 REEP1 2p11.2 Autosomal dominant Distal spinal muscular atrophy type VB
    Locus and phenotype overlapping with SPG-31
    DHMN6 604320 IGHMBP2 11q13.3 Autosomal recessive Distal spinal muscular atrophy type 1 (DSMA1); spinal muscular atrophy with respiratory distress type 1 (SMARD1)
    Infant onset, severe, with diaphragmatic failure
    DHMN7A 158580 SLC5A7 2q12.3 Autosomal dominant Spinal muscular atrophy with vocal cord paralysis; Harper–Young myopathy
    Infant onset with vocal cord paralysis
    DHMN7B 607641 DCTN1 2p13.1 Autosomal dominant Adult onset with vocal cord paralysis and facial weakness
    DHMN8 600175 TRPV4 12q24.11 Autosomal dominant Congenital distal spinal muscular atrophy
    Affects primarily distal muscles of lower limbs, non-progressive, rare
    DHMNJ 605726 SIGMAR1 9p13.3 Autosomal recessive Distal spinal muscular atrophy type 2; Jerash type spinal muscular atrophy
    Juvenile onset with pyramidal features

    Note: Acronym HMN is also used interchangeably with DHMN.

    See also


    Новое сообщение