Rare Disease Library

GNE myopathy

DMRV · Distal myopathy with rimmed vacuoles

Autosomal dominant Charcot-Marie-Tooth disease type 2

Autosomal dominant axonal Charcot-Marie-Tooth disease · CMT2

Distal hereditary motor neuropathy type 1

Autosomal dominant distal juvenile spinal muscular atrophy type 1 · dHMN1

Distal hereditary motor neuropathy type 2

Distal spinal muscular atrophy type 2 · dHMN2

Distal hereditary motor neuropathy type 5

Distal hereditary motor neuropathy type V · Distal HMN V

Distal hereditary motor neuropathy type 7

Distal spinal muscular atrophy with vocal cord paralysis · dHMN7

Familial visceral myopathy

Familial hollow visceral myopathy · Hereditary hollow visceral myopathy

Hereditary inclusion body myopathy type 4

HIBM4

Hereditary inclusion body myopathy-joint contractures-ophthalmoplegia syndrome

HIBM3 · Hereditary inclusion body myopathy type 3

Hereditary myopathy with early respiratory failure

MFM-titinopathy · Hereditary inclusion body myopathy with early respiratory failure

Inclusion body myositis

IBM · Sporadic inclusion body myositis

Inclusion myopathy

Polyglucosan body myopathy type 2

Spinal muscular atrophy with respiratory distress type 1

Autosomal recessive distal spinal muscular atrophy type 1 · Autosomal recessive spinal muscular atrophy with respiratory distress