Dysferlin-related limb-girdle muscular dystrophy R2

Distal upper limb muscle weakness

Reduced strength of the distal musculature of the arms....

Limbs

Dysphagia

Difficulty in swallowing....

Digestive, Neurological

Lower limb muscle weakness

Weakness of the muscles of the legs....

Limbs

Neck flexor weakness

Weakness of the muscles involved in neck flexion (sternocleidomastoid, longus capitus, longus colli, and scale...

General

Pollakisuria

Increased frequency of urination....

Genitourinary

Proximal lower limb muscle weakness

A lack of strength of the proximal muscles of the legs....

Limbs

Proximal upper limb muscle weakness

A lack of strength of the proximal muscles of the arms....

Limbs

Scapular winging

Abnormal protrusion of the scapula away from the surface of the back....

Limbs, Skeletal

Autosomal dominant Charcot-Marie-Tooth disease type 2Y

Autosomal dominant Charcot-Marie-Tooth disease type 2Y is a medical condition that may be associated with vari...

Charcot-Marie-Tooth disease type 4B2

Charcot-Marie-Tooth disease type 4B2 is a medical condition that may be associated with various symptoms and s...

Emery-Dreifuss muscular dystrophy 2, autosomal dominant

Emery-Dreifuss muscular dystrophy inherited in an autosomal dominant pattern and caused by mutations in the LM...

congenital myopathy 25

congenital myopathy 25 is a medical condition that may be associated with various symptoms and signs....

myopathy, myofibrillar, 13, with rimmed vacuoles

A rare genetic neuromuscular disease caused by a mutation in HSPB8 gene, characterized by length-dependent axo...

neuronopathy, distal hereditary motor, autosomal recessive 7

neuronopathy, distal hereditary motor, autosomal recessive 7 is a medical condition that may be associated wit...