Distal Hereditary Motor Neuronopathy Type 2a

Alias:
Neuronopathy, Distal Hereditary Motor, Type 2a
Autosomal Dominant Adult Spinal Muscular Atrophy Iia
Neuronopathy, Distal Hereditary Motor, Type Iia
Distal Hereditary Motor Neuropathy Type Iia
Spinal Charcot-Marie-Tooth Disease Iia
Hmn Iia
Hmn2a
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Distal Hereditary Motor Neuronopathy Type 2a, also known as neuronopathy, distal hereditary motor, type 2a, is related to neuronopathy, distal hereditary motor, autosomal dominant 2 and severe congenital nemaline myopathy. An important gene associated with Distal Hereditary Motor Neuronopathy Type 2a is HSPB8 (Heat Shock Protein Family B (Small) Member 8). Related phenotypes are distal lower limb muscle weakness and distal muscle weakness
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Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
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Unknown
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10
46
2

Medical Symptom

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Categorization
Description
HPO Frequency
Orphanet Frequency
HPO Source Accession
No data available

Gene & Mutation

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Mutations
No data available

Related Drugs

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No data available

Disease Model

Category
Name
MGI
Related Gene
Strain of Origin
Publications
No data available

References Literature

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PMID
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IF
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