Spinal muscular atrophy with lower extremity predominance 2A

Spinal muscular atrophy with lower extremity predominance 2A
Other names	Lower extremity-predominant spinal muscular atrophy type 2A, SMALED2A

Spinal muscular atrophy with lower extremity predominance 2A is inherited in an autosomal dominant manner.
Specialty	Neurology
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]}

References

^ ^a ^b ^c Online Mendelian Inheritance in Man (OMIM): 615290
^ Frasquet, M.; Camacho, A.; Vílchez, R.; Argente-Escrig, H.; Millet, E.; Vázquez-Costa, J. F.; Silla, R.; Sánchez-Monteagudo, A.; Vílchez, J. J.; Espinós, 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.

Diseases of the nervous system, primarily CNS

Inflammation

Brain	Encephalitis Viral encephalitis Herpesviral encephalitis Limbic encephalitis Encephalitis lethargica Cavernous sinus thrombosis Brain abscess Amoebic
Brain and spinal cord	Encephalomyelitis Acute disseminated Meningitis Meningoencephalitis

Brain/
encephalopathy

Degenerative

Extrapyramidal and movement disorders	Basal ganglia disease Parkinsonism PD Postencephalitic NMS NBIA PKAN Tauopathy PSP Striatonigral degeneration Hemiballismus HD OA Dyskinesia Dystonia Status dystonicus Spasmodic torticollis Meige's Blepharospasm Athetosis Chorea Choreoathetosis Myoclonus Myoclonic epilepsy Akathisia Tremor Essential tremor Intention tremor Restless legs Stiff-person
Dementia	Tauopathy Alzheimer's Early-onset Primary progressive aphasia Frontotemporal dementia/Frontotemporal lobar degeneration Pick's Lewy bodies dementia Posterior cortical atrophy Creutzfeldt–Jakob disease Vascular dementia
Mitochondrial disease	Leigh syndrome

Demyelinating

Autoimmune
Inflammatory
Multiple sclerosis
For more detailed coverage, see Template:Demyelinating diseases of CNS

Episodic/
paroxysmal

Seizures and epilepsy	Focal Generalised Status epilepticus For more detailed coverage, see Template:Epilepsy
Headache	Migraine Cluster Tension For more detailed coverage, see Template:Headache
Cerebrovascular	TIA Stroke For more detailed coverage, see Template:Cerebrovascular diseases
Other	Sleep disorders For more detailed coverage, see Template:Sleep

CSF

Other

Both/either

Degenerative

MND

UMN only:

LMN only:
- Distal hereditary motor neuronopathies
- Spinal muscular atrophies
  - SMA
  - SMAX1
  - SMAX2
  - DSMA1
  - Congenital DSMA
  - Spinal muscular atrophy with lower extremity predominance (SMALED)
  - SMA-PCH
  - SMA-PME
- Progressive muscular atrophy
- Progressive bulbar palsy
  - Fazio–Londe
  - Infantile progressive bulbar palsy

both:
- Amyotrophic lateral sclerosis

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