TY - JOUR
T1 - Predominant distal muscle involvement in spinal muscular atrophy
AU - Brogna, Claudia
AU - Cristiano, Lara
AU - Verdolotti, Tommaso
AU - Ficociello, Luana
AU - Pera, Maria Carmela
AU - Antonaci, Laura
AU - De Sanctis, Roberto
AU - Pichiecchio, A.
AU - Cinnante, C. M.
AU - Tartaglione, Tommaso
AU - Colosimo, Cesare
AU - Pane, Marika
AU - Mercuri, Eugenio Maria
PY - 2019
Y1 - 2019
N2 - Spinal muscular atrophy (SMA) is an autosomal recessive disorder characterized by degeneration of alpha motor neurons, clinically associated with muscle weakness, hypotonia and muscle atrophy. The weakness is predominant in the proximal muscles, with lower limbs often more involved than upper limbs with a typical distribution [1]. In the most severe cases the involvement is more diffuse affecting both proximal and distal muscles with very limited movements of hands and feet. The predominant proximal involvement has also been observed on muscle Magnetic Resonance Imaging (MRI) [2,3].
AB - Spinal muscular atrophy (SMA) is an autosomal recessive disorder characterized by degeneration of alpha motor neurons, clinically associated with muscle weakness, hypotonia and muscle atrophy. The weakness is predominant in the proximal muscles, with lower limbs often more involved than upper limbs with a typical distribution [1]. In the most severe cases the involvement is more diffuse affecting both proximal and distal muscles with very limited movements of hands and feet. The predominant proximal involvement has also been observed on muscle Magnetic Resonance Imaging (MRI) [2,3].
KW - Spinal muscular atrophy
KW - Spinal muscular atrophy
UR - http://hdl.handle.net/10807/143787
U2 - 10.1016/j.nmd.2019.09.002
DO - 10.1016/j.nmd.2019.09.002
M3 - Article
SN - 0960-8966
SP - N/A-N/A
JO - Neuromuscular Disorders
JF - Neuromuscular Disorders
ER -