Flail arm syndrome due to duplication mutations in the SMN1 gene: A case report

H Luo, S Li, B Liu - Medicine, 2023 - journals.lww.com
Rationale: Flail arm syndrome (FAS) only involves the upper limbs early stage and manifests
as proximal weakness and atrophy of both upper limbs and decreased tendon reflexes. As a …

Flail arm syndrome: a clinical variant of amyotrophic lateral sclerosis

A Czaplinski, AJ Steck, PM Andersen… - European journal of …, 2004 - Wiley Online Library
We describe a case of a 65‐year old patient diagnosed with amyotrophic lateral sclerosis.
The clinical findings, with symmetric, predominantly proximal wasting and weakness of both …

Flail arm syndrome with several issues related to the diagnostic process

JY Kim, YK Park, B Yoon, KO Lee… - Annals of Clinical …, 2017 - synapse.koreamed.org
Flail arm syndrome (FAS), known as one of the atypical amyotrophic lateral sclerosis (ALS)
variants, has a similar clinical course and pathologic findings as ALS. Therefore it is difficult …

Clinical heterogeneity in a family with flail arm syndrome and review of hnRNPA1‐related spectrum

X Han, F Zhan, Y Yao, L Cao, J Liu… - Annals of Clinical and …, 2022 - Wiley Online Library
Objective Flail arm syndrome (FAS) is one of the atypical subtypes of amyotrophic lateral
sclerosis (ALS). Mutations in hnRNPA1 encoding heterogeneous nuclear ribonucleoprotein …

[PDF][PDF] FLAIL ARM A FLAIL LEG SYNDRÓM–KAZUISTIKA

L Gurčík, Z Gajdošová, A Tomášová, P Galik… - Neurológia, 2011 - snmo.sk
FLAIL ARM A FLAIL LEG SYNDROME–CASE REPORT The paper provides information
about clinical symptoms, diagnostics and differential diagnostics of rare phenotypes of …

Spinal muscular atrophy due to a “de novo” 1.3 Mb deletion: Implication for genetic counseling

LRJ da Silva, MES Colovati, B Coprerski… - Neuromuscular …, 2013 - Elsevier
We report a 3-year-old female with type I spinal muscular atrophy (SMA) born to a young
and non-consanguineous couple. The child presented at two months of life with intense …

Distally pronounced infantile spinal muscular atrophy with severe axonal and demyelinating neuropathy associated with the S230L mutation of SMN1

S Rudnik-Schöneborn, N Barisić, K Eggermann… - Neuromuscular …, 2016 - Elsevier
Two Croatian siblings with atypical clinical findings in the presence of SMN1 gene mutations
are reported. The girl presented with delayed motor development and weakness in hands …

Flail Leg Phenotype in Familial Amyotrophic Lateral Sclerosis: Think of a Cause With Something to Offer

SB Gomathy, A Das, AK Srivastava - Journal of Clinical …, 2024 - journals.lww.com
To the Editor: Amyotrophic lateral sclerosis (ALS) is a progressive and fatal disease that
causes degeneration of motor neurons in the cerebral cortex, brain stem, and spinal cord. 1 …

Flail arm syndrome with cytoplasmic vacuoles in remaining anterior horn motor neurons: A peculiar variant of amyotrophic lateral sclerosis

S Hino, S Sasaki - Neuropathology, 2015 - Wiley Online Library
Flail arm (FA) syndrome, a minor subtype of amyotrophic lateral sclerosis (ALS), is
characterized by progressive weakness and upper girdle wasting, but the associated …

Clinical features and differential diagnosis of flail arm syndrome

A Hübers, V Hildebrandt, S Petri, K Kollewe… - Journal of …, 2016 - Springer
Flail arm syndrome (FAS) is a variant of motor neuron disease which is characterized by
progressive, predominantly proximal weakness and atrophy of the upper limbs (UL) …