NAIP gene related symptoms and diseases

All the information presented here about the NAIP gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: NCBIGENE,HGNC,OMIM,ORPHANET, Mendelian Rare Disease Search Engine.

Top 5 symptoms and clinical features associated to NAIP gene

Symptoms // Phenotype % Cases
Muscle weakness Very Common - Between 80% and 100% cases
Degeneration of anterior horn cells Very Common - Between 80% and 100% cases
Skeletal muscle atrophy Very Common - Between 80% and 100% cases
Tongue fasciculations Very Common - Between 80% and 100% cases
Spinal muscular atrophy Very Common - Between 80% and 100% cases

Other less frequent symptoms and clinical features

Patients with NAIP gene alterations may also develop some of the following symptoms and phenotypes:
  • Commonly - More than 50% cases

  • Proximal muscle weakness
  • EMG abnormality
  • Hand tremor
  • Scoliosis
  • Recurrent respiratory infections
  • Abnormality of the skeletal system
  • Not very common - Between 30% and 50% cases

  • Joint laxity
  • Hernia

And 40 more phenotypes, you can get all of them using our tools for rare diseases.

Rare diseases associated to NAIP gene

Here you will find a list of rare diseases related to the NAIP. You can also use our tool to get a more accurate diagnosis based on your current symptoms.


PROXIMAL SPINAL MUSCULAR ATROPHY TYPE 2

Alternate names

PROXIMAL SPINAL MUSCULAR ATROPHY TYPE 2 Is also known as sma-ii, sma type 2, intermediate spinal muscular atrophy, chronic spinal muscular atrophy, sma ii, muscular atrophy, spinal, intermediate type, sma2, muscular atrophy, spinal, infantile chronic form, sma type ii, chronic infantile spinal muscular atrophy

Description

Proximal spinal muscular atrophy type 2 (SMA2) is a chronic infantile form of proximal spinal muscular atrophy (see this term) characterized by muscle weakness and hypotonia resulting from the degeneration and loss of the lower motor neurons in the spinal cord and the brain stem nuclei.

Most common symptoms of PROXIMAL SPINAL MUSCULAR ATROPHY TYPE 2

  • Scoliosis
  • Muscle weakness
  • Feeding difficulties
  • Skeletal muscle atrophy
  • Tremor


More info about PROXIMAL SPINAL MUSCULAR ATROPHY TYPE 2

SOURCES: OMIM MESH ORPHANET

PROXIMAL SPINAL MUSCULAR ATROPHY TYPE 3

Alternate names

PROXIMAL SPINAL MUSCULAR ATROPHY TYPE 3 Is also known as muscular atrophy, juvenile, sma3, spinal muscular atrophy, mild childhood and adolescent form, kugelberg-welander syndrome, sma iii, kugelberg-welander disease, sma-iii, juvenile spinal muscular atrophy, sma type 3, sma type iii, kws

Description

Proximal spinal muscular atrophy type 3 (SMA3) is a relatively mild form of proximal spinal muscular atrophy (see this term) characterized by muscle weakness and hypotonia resulting from the degeneration and loss of the lower motor neurons in the spinal cord and the brain stem nuclei.

Most common symptoms of PROXIMAL SPINAL MUSCULAR ATROPHY TYPE 3

  • Muscle weakness
  • Skeletal muscle atrophy
  • Hyporeflexia
  • Proximal muscle weakness
  • Muscular dystrophy


More info about PROXIMAL SPINAL MUSCULAR ATROPHY TYPE 3

SOURCES: ORPHANET OMIM

PROXIMAL SPINAL MUSCULAR ATROPHY TYPE 1

Alternate names

PROXIMAL SPINAL MUSCULAR ATROPHY TYPE 1 Is also known as muscular atrophy, infantile, sma type 1, sma-i, infantile spinal muscular atrophy, sma, infantile acute form, sma1, werdnig-hoffmann disease, sma i, sma type i

Description

Proximal spinal muscular atrophy type 1 (SMA1) is a severe infantile form of proximal spinal muscular atrophy (see this term) characterized by severe and progressive muscle weakness and hypotonia resulting from the degeneration and loss of the lower motor neurons in the spinal cord and the brain stem nuclei.

Most common symptoms of PROXIMAL SPINAL MUSCULAR ATROPHY TYPE 1

  • Global developmental delay
  • Generalized hypotonia
  • Scoliosis
  • Muscle weakness
  • Flexion contracture


More info about PROXIMAL SPINAL MUSCULAR ATROPHY TYPE 1

SOURCES: OMIM ORPHANET



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