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GTR Home > Conditions/Phenotypes > Autosomal dominant childhood-onset proximal spinal muscular atrophy without contractures

Autosomal dominant childhood-onset proximal spinal muscular atrophy without contractures

Synonyms
KUGELBERG-WELANDER SYNDROME, AUTOSOMAL DOMINANT; SPINAL MUSCULAR ATROPHY, CHILDHOOD, PROXIMAL, AUTOSOMAL DOMINANT; SPINAL MUSCULAR ATROPHY, JUVENILE, PROXIMAL, AUTOSOMAL DOMINANT; Spinal muscular atrophy, lower extremity predominant 1, autosomal dominant; Spinal muscular atrophy, lower extremity-predominant 1, AD
Modes of inheritance
Autosomal dominant inheritance (Orphanet)

Summary

Excerpted from the GeneReview: DYNC1H1-Related Disorders
DYNC1H1-related disorders are primarily characterized by an axonal neuropathy with a wide phenotypic spectrum ranging from a neuromuscular-only phenotype (DYNC1H1-related neuromuscular disorder, or DYNC1H1-NMD) to phenotypes involving both the central nervous system and peripheral nervous system referred to collectively as DYNC1H1-related neurodevelopmental disorder (DYNC1H1-NDD). DYNC1H1-NMD manifestations are limited to the peripheral nervous system and characterized predominantly by motor neuropathy initially most pronounced in the lower limbs; muscle weakness and atrophy variably associated with foot deformities, contractures, and other skeletal involvement; and/or delayed motor milestones. DYNC1H1-NDD manifestations include motor axonal neuropathy and often global developmental delay / intellectual disability, epilepsy, neurobehavioral/psychiatric manifestations, and movement disorders with or without malformations of cortical development and/or microcephaly. In an individual with more significant central nervous system involvement, the motor axonal neuropathy may not be evident clinically and, thus, is only detected on further evaluation such as electrophysiologic testing.
Full text of GeneReview (by section):
Summary
GeneReview Scope
Diagnosis
Clinical Characteristics
Genetically Related (Allelic) Disorders
Differential Diagnosis
Management
Genetic Counseling
Resources
Molecular Genetics
Chapter Notes
References
Authors:
Birk Möller
Antonietta Coppola
Heinz Jungbluth
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Available tests

40 tests are in the database for this condition.

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Clinical tests (40 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: CDCBM13, CMT2O, DHC1, DHC1a, DNCH1, DNCL, DNECL, DYHC, Dnchc1, HL-3, SMALED1, p22, DYNC1H1
    Summary: dynein cytoplasmic 1 heavy chain 1

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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