Age of Onset | Disorder | Gene(s) or Region | MOI | Clinical Features of Disorder |
|---|
UBA1 | XL | Hypotonia, weakness, areflexia | Multiple congenital contractures, intrauterine fractures SMARD11 (OMIM 604320) | — |
IGHMBP2 | AR | Weakness, respiratory failure, hypo- or areflexia | Distal predominant weakness, diaphragmatic paralysis GARS1-related infantile-onset SMA2 (OMIM 619042) | — |
GARS1 | AD | Hypotonia, weakness, areflexia | Diaphragmatic paralysis, sensory involvement | — |
Prader-Willi syndrome | 15q11.2-q133 | See footnote 3. | Hypotonia, feeding difficulties | Poor respiratory effort is rare. Myotonic dystrophy type 1 |
DMPK | AD | Hypotonia, muscle weakness | Marked facial weakness | — |
Congenital muscular dystrophy | Many genes | ARAD | Hypotonia, muscle weakness | CNS, eye involvement, possible tone |
Zellweger spectrum disorder | PEX family of genes | AR | Hypotonia | Hepatosplenomegaly, CNS |
Congenital myasthenic syndromes | CHATCHRNECOLQDOK7GFPT1RAPSN4 | ARAD | Hypotonia | Ophthalmoplegia, ptosis, episodic respiratory failure Pompe disease |
GAA | AR | Hypotonia | Cardiomegaly | — |
Other: congenital myopathies,5 metabolic/mitochondrial myopathies,6 peripheral neuropathies7 6 mos | Botulism | NA | Proximal muscle weakness, reflexes | Prominent cranial nerve palsies, acute onset |
Later childhood | Guillain-Barr syndrome | NA | Muscle weakness | Subacute onset, sensory involvement Duchenne muscular dystrophy |
DMD | XL | Muscle weakness, motor regression | Serum creatine kinase concentration 10-20x normal Hexosaminidase A deficiency (juvenile, chronic, adult-onset variants) | — |
HEXA | AR | Lower motor neuron disease | Slow progression, progressive dystonia, spinocerebellar degeneration, cognitive/psychiatric involvement Fazio-Londe syndrome (See Riboflavin Transporter Deficiency Neuronopathy.) | SLC52A2 |
SLC52A3 | AR | Progressive bulbar palsy | Limited to lower cranial nerves; progresses to death in 1-5 yrs | — |
Monomelic amyotrophy (Hirayama disease) (OMIM 602440) | Unknown | Muscle weakness | Predominantly cervical; tongue may be affected (rare); other cranial nerves spared | — |
Other: peripheral neuropathies,7 muscular dystrophies8 Adulthood | Spinal bulbar muscular atrophy (Kennedy disease) | — | — | — |
AR | XL | Proximal muscle weakness, muscle atrophy, fasciculations | Gradually progressive; gynecomastia, testicular atrophy, fertility | — |
Amyotrophic lateral sclerosis | Many genes9 | ADARXL | May begin w/pure lower motor neuron signs | Progressive neurodegeneration; involves both upper lower motor neurons AD = autosomal dominant; AR = autosomal recessive; CNS = central nervous system; MOI = mode of inh... |
