Spinal Muscular Atrophy and Progressive Myoclonic Epilepsy: A Rare Association

Radhakrishnan, Divya M.; Shree, Ritu; Madhaw, Govind; Manchanda, Rajat; Mahadevan, Anita; Kumar, Niraj

doi:10.1055/s-0040-1721543

Cited by 4 publications

(2 citation statements)

References 5 publications

(17 reference statements)

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“…Rather, it has been observed that many patients with SMA are highly intelligent. Usually, spine deformities like scoliosis are seen in patients with SMA [4]. However, this case report shows the rare and unique presentation of SMA in a child with severe hyperlordosis, which will highlight its cause, its myriad manifestations, and the need for an affordable and accessible approach in terms of its management, both investigations and treatment.…”

Section: Introductionmentioning

confidence: 83%

Spinal Muscular Atrophy With Severe Hyperlordosis: A Case Report

Sharma,

Lohiya,

Vagha

et al. 2024

Cureus

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Spinal muscular atrophy (SMA) indicates a set of inherited autosomal recessive genetic disorders, where, specifically, the anterior horn cell motor neurons in the brain and spinal cord are affected, leading to a severe form of hypotonia and muscle weakness. The incidence is exceptionally rare, commonly manifesting as slowly progressive muscular weakness and atrophy of lower limbs. As per our existing knowledge, this is the first case of SMA associated with hyperlordosis in a patient. Hyperlordosis is a deformity in spinal curvature characterized by an excessive forward spinal curve in the region of the lower back, forming the characteristic C-shape curvature in the lumbar region, just above the buttocks.Parents brought an 11-year-old male child with complaints of inability to get up from a sitting position along with difficulty in walking for the past six months. Upon physical examination, deep tendon reflexes were absent; there was severe hyperlordosis, proximal limb weakness, and notable hypotonia. In our study, we aim to understand the clinical presentation, impact, and association of hyperlordosis in a child diagnosed with SMA. This case report describes the complaints and successful diagnosis of a patient of survivor motor neuron (SMN) gene-related SMA along with severe hyperlordosis backed by evidences of electrophysiology and neuropathology. However, a complete cure and normal lifestyle are not possible due to the lack of affordable and easily accessible therapies.

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Section: Introductionmentioning

confidence: 83%

Spinal Muscular Atrophy With Severe Hyperlordosis: A Case Report

Sharma,

Lohiya,

Vagha

et al. 2024

Cureus

View full text Add to dashboard Cite

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“…Affected individuals may also have difficulty in breathing, hepatosplenomegaly, and developmental delay [ 6 ]. SMA-PME was first described by Jankovic and Rivera in 1978 but the disease phenotype was linked to the ASAH1 gene in 2012 [ 7 ]. It is an autosomal recessive disorder representing a heterogeneous group of epilepsies, usually starting within 2–6 years of age with muscle atrophy, difficulty in walking and tremors, and later developing into myoclonic epilepsy usually during late childhood.…”

Section: Introductionmentioning

confidence: 99%

Spinal Muscular Atrophy with Progressive Myoclonic Epilepsy (SMA-PME): three new cases and review of the mutational spectrum

et al. 2023

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Background Spinal muscular atrophy (SMA) could be classified as 5q and non-5q, based on the chromosomal location of causative genes. A rare form of non-5q SMA is an autosomal-recessive condition called spinal muscular atrophy with progressive myoclonic epilepsy (SMA-PME), phenotypically characterized by myoclonic and generalized seizures with progressive neurological deterioration. SMA-PME is a clinically heterogeneous disorder that arises from biallelic pathogenic variants in ASAH1 gene. Methods Following clinical and primary laboratory assessments, whole-exome sequencing was performed to detect the disease-causing variants in three cases of SMA-PME from different families. Also, Multiplex ligation-dependent probe amplification (MLPA) was employed for determining the copy numbers of SMN1 and SMN2 genes to rule out 5q SMA. Results Exome sequencing revealed two different homozygous missense mutations (c.109 C > A [p.Pro37Thr] or c.125 C > T [p.Thr42Met]) in exon 2 of the ASAH1 gene in the affected members of the families. Sanger sequencing of the other family members showed the expected heterozygous carriers. In addition, no clinically relevant variant was identified in patients by MLPA. Conclusion This study describes two different ASAH1 mutations and the clinical picture of 3 SMA-PME patients. In addition, previously reported mutations have been reviewed. This study could help to fortify the database of this rare disease with more clinical and genomic data.

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