Hirayama disease is a rare self-limited condition characterized by asymmetric muscle weakness and amyotrophy
of the distal upper limbs involving the C7-T1 myotomes.
From left to right are limb salvage, bloated foot, amyotrophy
, mild loss of limb, and severe loss of limb, respectively (yellow arrow).
This induces a progressive amyotrophy
and stretching of all muscular fibers of the dome.
Progressive bulbo spinal amyotrophy
in triple A syndrome with AAAS gene mutation.
(5.) Chance PR Inherited focal, episodic neuropathies: hereditary neuropathy with liability to pressure palsies and hereditary neuralgic amyotrophy
. Neuromolecular Med 2006; 8: 159-74.
(6,7) Isolated clinical comorbidities * Laryngomalacia * Subglottic stenosis * Subdural hematoma * Central nervous system malformations including Arnold Chiari malformation * Arthrogryposis * Facial dysmorphic features * Velopharyngeal insufficiency * Hypotonia/myopathy * Ear deformities/sensorineural hearing loss Syndromic associations * Robinow syndrome * Goldenhar syndrome * Down syndrome * Williams syndrome * DiGeorge syndrome * Mobius syndrome * Charcot-Marie-Tooth disease (type 1, 1b and 2) * JS-X syndrome * Hereditary neuralgic amyotrophy
* Congenital myasthenic syndrome
Keywords: Juvenile muscular atrophy, Monomelic amyotrophy
, Ulnar entrapment.
Notalgia paresthetica following neuralgic amyotrophy
: a case report.
It is also known as brachial plexus neuritis, neuralgic amyotrophy
, brachial plexitis, brachial plexus neuropathy, or shoulder girdle syndrome or neuritis.
Cheng, "Interaction between muscle and bone, and improving the effects of electrical muscle stimulation on amyotrophy
and bone loss in a denervation rat model via sciatic neurectomy," Biomedical Reports, vol.
The disease has also been described under various clinical entities in the literature as "juvenile muscular atrophy of the distal upper extremity, juvenile asymmetric segmental spinal muscular atrophy, and benign focal amyotrophy
or monomelic amyotrophy
Previous reports about patellar tendon repair have recommended early mobilization to prevent both amyotrophy
of quadriceps and joint contracture [19, 20].
Physical exam revealed global amyotrophy
of limbs mostly proximal.
Neurological examination revealed lumbar hyperlordosis with a waddling gait, a severe proximal weakness of lower limbs, upper limbs, and paraspinal muscles and amyotrophy
in four limbs with moderate calves' hypertrophy.
. This affects the quadriceps muscles with pain and wasting, usually asymmetrical, in older men.