From Wikipedia, the free encyclopedia
Rare genetic disease
Medical condition
Spinal muscular atrophy with lower extremity predominance 2A
|
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Other names
| Lower extremity-predominant spinal muscular atrophy type 2A, SMALED2A
|
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![](//upload.wikimedia.org/wikipedia/commons/thumb/4/4e/Autosomal_dominant_-_en.svg/220px-Autosomal_dominant_-_en.svg.png) |
Spinal muscular atrophy with lower extremity predominance 2A is inherited in an
autosomal dominant
manner.
|
Specialty
| Neurology
|
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Symptoms
| Muscle weakness in legs
|
---|
Usual onset
| Infancy
|
---|
Duration
| Lifetime
|
---|
Causes
| Mutations in
BICD2
gene
|
---|
Diagnostic method
| Molecular test
|
---|
Spinal muscular atrophy with lower extremity predominance 2A
(
SMALED2A
) is a rare neuromuscular disorder characterised by muscle weakness predominantly in legs. The disorder is usually diagnosed shortly after birth; affected children have a delayed motor development, waddling gait, difficulties walking, sometimes develop spasticity.
[1]
[2]
Sensation, swallowing and
cognitive development
are not affected. The disorder is slowly progressive throughout the lifetime.
[1]
The disease is caused by a
mutation
in the
BICD2
gene
and is passed on in an
autosomal dominant
manner.
[1]
There is no known cure for SMALED2A.
[
citation needed
]
See also
[
edit
]
References
[
edit
]
- ^
a
b
c
Online Mendelian Inheritance in Man
(OMIM):
615290
- ^
Frasquet, M.; Camacho, A.; Vilchez, R.; Argente-Escrig, H.; Millet, E.; Vazquez-Costa, J. F.; Silla, R.; Sanchez-Monteagudo, A.; Vilchez, J. J.; Espinos, C.; Lupo, V. (2020).
"Clinical spectrum of BICD2 mutations"
.
European Journal of Neurology
.
27
(7): 1327?1335.
doi
:
10.1111/ene.14173
.
ISSN
1351-5101
.
PMID
32056343
.
S2CID
211110838
.