myopathy, myofibrillar, 13, with rimmed vacuoles
A rare genetic neuromuscular disease caused by a mutation in HSPB8 gene, characterized by length-dependent axonal motor neuropathy predominantly affecting the lower limbs, in combination with a myopathy with morphological features of myofibrillar myopathy with aggregates and rimmed vacuoles.
Also known as: HSPB8-associated autosomal dominant rimmed vacuolar myopathy, HSPB8-related autosomal dominant distal axonal motor neuropathy-myofibrillar myopathy syndrome, MFM13, autosomal dominant distal axonal motor neuropathy-myofibrillar myopathy syndrome, limb-girdle rimmed vacuolar myopathy, rimmed vacuoles myopathy.
Category: General
Symptoms associated with myopathy, myofibrillar, 13, with rimmed vacuoles
The following symptoms have been associated with myopathy, myofibrillar, 13, with rimmed vacuoles in medical literature. Not everyone experiences the same symptoms.
Asthenia
A state characterized by a feeling of weakness and loss of strength leading to a generalized weakness of the b...
Distal lower limb muscle weakness
Reduced strength of the distal musculature of the legs....
Foot dorsiflexor weakness
Weakness of the muscles responsible for dorsiflexion of the foot, that is, of the movement of the toes towards...
Hand muscle weakness
Reduced strength of the musculature of the hand....
Hearing impairment
A decreased magnitude of the sensory perception of sound....
Hypertension
The presence of chronic increased pressure in the systemic arterial system....
Limb-girdle muscle weakness
Weakness of the limb-girdle muscles (also known as the pelvic and shoulder girdles), that is, lack of strength...
Lower limb muscle weakness
Weakness of the muscles of the legs....
Neck flexor weakness
Weakness of the muscles involved in neck flexion (sternocleidomastoid, longus capitus, longus colli, and scale...
Proximal lower limb muscle weakness
A lack of strength of the proximal muscles of the legs....
Proximal upper limb muscle weakness
A lack of strength of the proximal muscles of the arms....
Scapular winging
Abnormal protrusion of the scapula away from the surface of the back....
Shoulder girdle muscle weakness
The shoulder, or pectoral, girdle is composed of the clavicles and the scapulae. Shoulder-girdle weakness refe...
Tests used to investigate myopathy, myofibrillar, 13, with rimmed vacuoles
Healthcare providers may order these tests when evaluating myopathy, myofibrillar, 13, with rimmed vacuoles. Test selection is a clinical decision made by a qualified professional.
CBC with Differential
Measures red blood cells, white blood cells, and platelets to help evaluate overall health and detect disorder...
Comprehensive Metabolic Panel (CMP)
Measures 14 substances in the blood to assess kidney and liver function, electrolyte balance, and blood sugar ...
Urinalysis
Examines urine content to help detect urinary tract infections, kidney disease, and diabetes....
Conditions with overlapping symptoms
These conditions share symptoms with myopathy, myofibrillar, 13, with rimmed vacuoles, which is why a clinical evaluation is important.
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...
Autosomal dominant Charcot-Marie-Tooth disease type 2Z
Autosomal dominant Charcot-Marie-Tooth disease type 2Z is a medical condition that may be associated with vari...
Charcot-Marie-Tooth disease type 1F
Charcot-Marie-Tooth disease type 1F is a medical condition that may be associated with various symptoms and si...
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....
multiple mitochondrial dysfunctions syndrome 9b
A mitochondrial dysfunction syndrome in which the cause of the disease is a mutation in the FDXR gene. It is c...
Frequently Asked Questions
What is myopathy, myofibrillar, 13, with rimmed vacuoles?
myopathy, myofibrillar, 13, with rimmed vacuoles is a health condition described in medical literature. A rare genetic neuromuscular disease caused by a mutation in HSPB8 gene, characterized by length-dependent axonal motor neuropathy predominantly affecting the lower limbs, in combination with a myopathy with morphological features of myofibrillar myopathy with aggregates and rimmed vacuoles.
What are the symptoms of myopathy, myofibrillar, 13, with rimmed vacuoles?
myopathy, myofibrillar, 13, with rimmed vacuoles is associated with 13 symptoms in the medical literature we index, including Asthenia, Distal lower limb muscle weakness, Foot dorsiflexor weakness, Hand muscle weakness, Hearing impairment, Hypertension. Symptoms vary widely between individuals.
How is myopathy, myofibrillar, 13, with rimmed vacuoles diagnosed or investigated?
A healthcare provider may use a combination of medical history, physical examination, and tests. Common tests associated with myopathy, myofibrillar, 13, with rimmed vacuoles include CBC with Differential, Comprehensive Metabolic Panel (CMP), Urinalysis. This information is educational, not a diagnosis.
Is SymptomDatabase.com diagnosing me?
No. SymptomDatabase.com does not provide diagnosis. If you are concerned you may have myopathy, myofibrillar, 13, with rimmed vacuoles, please discuss your symptoms with a qualified healthcare provider.