Spinal muscular atrophy, type IV
- Synonyms
- Adult spinal muscular atrophy; Adult-onset spinal muscular atrophy; SMA 4; Spinal muscular atrophy type 4; Spinal muscular atrophy, adult form; Spinal muscular atrophy, proximal, adult, autosomal recessive
- Modes of inheritance
- Autosomal recessive inheritance (Orphanet)
Summary
Excerpted from the GeneReview:- 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:
- Thomas W Prior
- Meganne E Leach
- Erika L Finanger
- view full author information
Available tests
Check Related conditions for additional relevant tests.
Clinical tests (29 available)
Clinical features
Help- Abnormality of head or neck
- Tongue fasciculations
Tongue fasciculations
- MedGen UID: 65987
- Concept ID: C0239548
- Finding: Finding
Abnormality of head or neck
- Tongue fasciculations
- Abnormality of limbs
- Areflexia of lower limbs
Areflexia of lower limbs
- MedGen UID: 347285
- Concept ID: C1856694
- Finding: Finding
Abnormality of limbs
- Areflexia of lower limbs
- Abnormality of the musculoskeletal system
- Angulated muscle fibers
Angulated muscle fibers
- MedGen UID: 1699728
- Concept ID: C5233187
- Finding: Finding
Abnormality of the musculoskeletal system
- Calf muscle hypertrophy
Calf muscle hypertrophy
- MedGen UID: 335868
- Concept ID: C1843057
- Finding: Finding
Abnormality of the musculoskeletal system
- Centrally nucleated skeletal muscle fibers
Centrally nucleated skeletal muscle fibers
- MedGen UID: 330782
- Concept ID: C1842170
- Finding: Finding
Abnormality of the musculoskeletal system
- EMG: neuropathic changes
EMG: neuropathic changes
- MedGen UID: 867363
- Concept ID: C4021727
- Finding: Finding
Abnormality of the musculoskeletal system
- Increased variability in muscle fiber diameter
Increased variability in muscle fiber diameter
- MedGen UID: 336019
- Concept ID: C1843700
- Finding: Finding
Abnormality of the musculoskeletal system
- Muscle fiber necrosis
Muscle fiber necrosis
- MedGen UID: 376893
- Concept ID: C1850848
- Finding: Pathologic Function
Abnormality of the musculoskeletal system
- Proximal amyotrophy
Proximal amyotrophy
- MedGen UID: 342591
- Concept ID: C1850794
- Finding: Disease or Syndrome
Abnormality of the musculoskeletal system
- Proximal muscle weakness
Proximal muscle weakness
- MedGen UID: 113169
- Concept ID: C0221629
- Finding: Finding
Abnormality of the musculoskeletal system
- Quadriceps muscle atrophy
Quadriceps muscle atrophy
- MedGen UID: 870170
- Concept ID: C4024603
- Finding: Pathologic Function
Abnormality of the musculoskeletal system
- Rimmed vacuoles
Rimmed vacuoles
- MedGen UID: 340089
- Concept ID: C1853932
- Finding: Finding
Abnormality of the musculoskeletal system
- Spinal muscular atrophy
Spinal muscular atrophy
- MedGen UID: 7755
- Concept ID: C0026847
- Finding: Disease or Syndrome
Abnormality of the musculoskeletal system
- Type 1 muscle fiber predominance
Type 1 muscle fiber predominance
- MedGen UID: 344274
- Concept ID: C1854387
- Finding: Finding
Abnormality of the musculoskeletal system
- Angulated muscle fibers
- Abnormality of the nervous system
- Degeneration of anterior horn cells
Degeneration of anterior horn cells
- MedGen UID: 375215
- Concept ID: C1843505
- Finding: Finding
Abnormality of the nervous system
- Hand tremor
Hand tremor
- MedGen UID: 68689
- Concept ID: C0239842
- Finding: Finding
Abnormality of the nervous system
- Waddling gait
Waddling gait
- MedGen UID: 66667
- Concept ID: C0231712
- Finding: Finding
Abnormality of the nervous system
- Degeneration of anterior horn cells
- ACMG ACT, 2020American College of Medical Genetics and Genomics, Newborn Screening ACT Sheet, Exon 7 Deletion (Pathogenic Variant) in Survival Motor Neuron Gene (SMN1), Spinal Muscular Atrophy (SMA), 2020
- EuroGenetest, 2012Clinical utility gene card for: proximal spinal muscular atrophy.
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