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Items: 7

1.

Autosomal dominant childhood-onset proximal spinal muscular atrophy without contractures

Spinal muscular atrophy (SMA) is a hereditary neuromuscular disorder characterized by degeneration of spinal cord motor neurons resulting in muscle weakness. SMALED shows autosomal dominant inheritance with muscle weakness predominantly affecting the proximal lower extremities (Harms et al., 2010). The most common form of SMA (see, e.g., SMA1, 253300) shows autosomal recessive inheritance and is due to mutation in the SMN1 gene (600354) on chromosome 5q. Genetic Heterogeneity of Lower Extremity-Predominant Spinal Muscular Atrophy See also SMALED2A (615290) and SMALED2B (618291), both of which are caused by mutation in the BICD2 gene (609797) on chromosome 9q22. SMALED2A and SMALED2B differ in age at onset and severity, with SMALED2B being more severe. [from OMIM]

MedGen UID:
322470
Concept ID:
C1834690
Disease or Syndrome
2.

Neuronopathy, distal hereditary motor, type 5B

Autosomal dominant distal hereditary motor neuronopathy-12 (HMND12) is a neurologic disorder characterized by onset in the first or second decade of distal muscle weakness and atrophy, primarily affecting the intrinsic hand muscles, but also affecting the lower legs, resulting in abnormal gait and pes cavus (summary by Beetz et al., 2012). For a discussion of genetic heterogeneity of autosomal dominant distal HMN, see HMND1 (182960). [from OMIM]

MedGen UID:
766570
Concept ID:
C3553656
Disease or Syndrome
3.

Macular degeneration, age-related, 3

Age-related macular degeneration-3 (ARMD3) is characterized by numerous small round yellow lesions visible at the temporal edge of the macula. Larger, less distinct yellow areas near the center of the macula are also observed, which represent areas of pigment epithelial detachment (Stone et al., 2004). For a phenotypic description and a discussion of genetic heterogeneity of age-related macular degeneration, see 603075. [from OMIM]

MedGen UID:
373276
Concept ID:
C1837187
Disease or Syndrome
4.

Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures

SMALED2A is an autosomal dominant form of spinal muscular atrophy characterized by early childhood onset of muscle weakness and atrophy predominantly affecting the proximal and distal muscles of the lower extremity, although some patients may show upper extremity involvement. The disorder results in delayed walking, waddling gait, difficulty walking, and loss of distal reflexes. Some patients may have foot deformities or hyperlordosis, and some show mild upper motor signs, such as spasticity. Sensation, bulbar function, and cognitive function are preserved. The disorder shows very slow progression throughout life (summary by Oates et al., 2013). For discussion of genetic heterogeneity of lower extremity-predominant spinal muscular atrophy, see SMALED1 (158600). [from OMIM]

MedGen UID:
1669929
Concept ID:
C4747715
Disease or Syndrome
5.

Peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome

Peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome is a rare, syndromic genetic deafness characterized by a combination of muscle weakness, chronic neuropathic and myopathic features, hoarseness and sensorineural hearing loss. A wide range of disease onset and severity has been reported even within the same family. [from ORDO]

MedGen UID:
482186
Concept ID:
C3280556
Disease or Syndrome
6.

Neurodevelopmental disorder with poor growth and behavioral abnormalities

Neurodevelopmental disorder with poor growth and behavioral abnormalities (NEDGBA) is an autosomal recessive disorder characterized by global developmental delay, moderately to severely impaired intellectual development, often with absent speech, and behavioral abnormalities, including hyperactivity, short attention span, and ADHD. Affected individuals show failure to thrive with poor overall growth; some have microcephaly. Additional features may include nonspecific facial dysmorphism, hypotonia, and feeding difficulties (Vogt et al., 2022; Meng et al., 2023). [from OMIM]

MedGen UID:
1840909
Concept ID:
C5830273
Disease or Syndrome
7.

Decreased patellar reflex

Decreased intensity of the patellar reflex (also known as the knee jerk reflex). [from HPO]

MedGen UID:
478814
Concept ID:
C3277184
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