Skeletal muscle atrophy, and Limb-girdle muscular dystrophy

Diseases related with Skeletal muscle atrophy and Limb-girdle muscular dystrophy

In the following list you will find some of the most common rare diseases related to Skeletal muscle atrophy and Limb-girdle muscular dystrophy that can help you solving undiagnosed cases.


Top matches:

Medium match AUTOSOMAL RECESSIVE LIMB-GIRDLE MUSCULAR DYSTROPHY TYPE 2N


Autosomal recessive limb-girdle muscular dystrophy type 2N (LGMD2N) is a form of limb-girdle muscular dystrophy characterized by proximal weakness (manifesting as slowness in running) presenting in infancy, along with calf hypertrophy, mild lordosis, scapular winging and normal intelligence (or mild intellectual disability).

AUTOSOMAL RECESSIVE LIMB-GIRDLE MUSCULAR DYSTROPHY TYPE 2N Is also known as muscular dystrophy, limb-girdle, autosomal recessive 14|lgmd2n|muscular dystrophy, limb-girdle, type 2n|lgmdr14|muscular dystrophy-dystroglycanopathy, limb-girdle, pomt2-related

Related symptoms:

  • Muscle weakness
  • Motor delay
  • Elevated serum creatine phosphokinase
  • Proximal muscle weakness
  • Muscular dystrophy


SOURCES: ORPHANET OMIM MENDELIAN

More info about AUTOSOMAL RECESSIVE LIMB-GIRDLE MUSCULAR DYSTROPHY TYPE 2N

Medium match INCLUSION BODY MYOPATHY WITH EARLY-ONSET PAGET DISEASE WITH OR WITHOUT FRONTOTEMPORAL DEMENTIA 3; IBMPFD3


INCLUSION BODY MYOPATHY WITH EARLY-ONSET PAGET DISEASE WITH OR WITHOUT FRONTOTEMPORAL DEMENTIA 3; IBMPFD3 Is also known as multisystem proteinopathy 3|msp3

Related symptoms:

  • Muscle weakness
  • Cognitive impairment
  • Myopathy
  • Elevated serum creatine phosphokinase
  • Proximal muscle weakness


SOURCES: OMIM MENDELIAN

More info about INCLUSION BODY MYOPATHY WITH EARLY-ONSET PAGET DISEASE WITH OR WITHOUT FRONTOTEMPORAL DEMENTIA 3; IBMPFD3

Medium match MIYOSHI MUSCULAR DYSTROPHY 1; MMD1


Miyoshi muscular dystrophy is an autosomal recessive skeletal muscle disorder characterized by onset in young adulthood of distal muscle weakness affecting the upper and lower limbs but sparing the intrinsic hand muscles. Muscle weakness and atrophy particularly affects the gastrocnemius and soleus muscles, and can later spread to involve the thigh and gluteal muscles. Patients showed impaired tiptoe standing, difficulty in climbing stairs, and difficulty walking, but usually remain ambulatory. Serum creatine kinase is increased and muscle biopsies show myopathic and dystrophic changes with necrosis (summary by Miyoshi et al., 1986). Genetic Heterogeneity of Miyoshi Muscular DystrophyMiyoshi muscular dystrophy is a genetically heterogeneous disorder: MMD2 (OMIM ) has been mapped to chromosome 10p, and MMD3 (OMIM ) is caused by mutation in the ANO5 gene (OMIM ) on chromosome 11p14.See also Welander myopathy (OMIM ), an autosomal dominant form of late-onset distal myopathy.

MIYOSHI MUSCULAR DYSTROPHY 1; MMD1 Is also known as muscular dystrophy, distal, late-onset, autosomal recessive|miyoshi myopathy

Related symptoms:

  • Muscle weakness
  • Skeletal muscle atrophy
  • Myopathy
  • Elevated serum creatine phosphokinase
  • Difficulty walking


SOURCES: OMIM MENDELIAN

More info about MIYOSHI MUSCULAR DYSTROPHY 1; MMD1

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Other less relevant matches:

Medium match AUTOSOMAL RECESSIVE LIMB-GIRDLE MUSCULAR DYSTROPHY TYPE 2O


Autosomal recessive limb-girdle muscular dystrophy type 2O (LGMD2O) is a form of limb-girdle muscular dystrophy characterized by an onset in childhood or adolescence of rapidly progressive proximal limb muscle weakness (particularly affecting the neck, hip girdle, and shoulder abductors), hypertrophy in the calves and quadriceps, ankle contractures, and myopia.

AUTOSOMAL RECESSIVE LIMB-GIRDLE MUSCULAR DYSTROPHY TYPE 2O Is also known as lgmdr15|muscular dystrophy, limb-girdle, type 2o|muscular dystrophy-dystroglycanopathy, limb-girdle, pomgnt1-related|lgmd2o|muscular dystrophy, limb-girdle, autosomal recessive 15

Related symptoms:

  • Muscle weakness
  • Motor delay
  • Myopia
  • Skeletal muscle atrophy
  • Fatigue


SOURCES: ORPHANET OMIM MENDELIAN

More info about AUTOSOMAL RECESSIVE LIMB-GIRDLE MUSCULAR DYSTROPHY TYPE 2O

Medium match AUTOSOMAL RECESSIVE LIMB-GIRDLE MUSCULAR DYSTROPHY TYPE 2J


Autosomal recessive limb-girdle muscular dystrophy type 2J (LGMD2J) is a form of limb-girdle muscular dystrophy that usually has a childhood onset (but can range from the first to third decade of life) of severe progressive proximal weakness, eventually involving the distal muscles. Some patients may remain ambulatory but most are wheelchair dependant 20 years after onset.

AUTOSOMAL RECESSIVE LIMB-GIRDLE MUSCULAR DYSTROPHY TYPE 2J Is also known as lgmd2j|muscular dystrophy, limb-girdle, type 2j

Related symptoms:

  • Cardiomyopathy
  • Myopathy
  • Elevated serum creatine phosphokinase
  • Proximal muscle weakness
  • Distal muscle weakness


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about AUTOSOMAL RECESSIVE LIMB-GIRDLE MUSCULAR DYSTROPHY TYPE 2J

Medium match NONAKA MYOPATHY; NM


NONAKA MYOPATHY; NM Is also known as myopathy, distal, with or without rimmed vacuoles|gne myopathy|inclusion body myopathy 2, autosomal recessive, formerly|ibm2, formerly|hibm|nonaka distal myopathy|inclusion body myopathy, quadriceps-sparing|qsm|inclusion body myopathy, hereditary, autosom

Related symptoms:

  • Ataxia
  • Muscle weakness
  • Gait disturbance
  • Myopathy
  • Elevated serum creatine phosphokinase


SOURCES: OMIM MENDELIAN

More info about NONAKA MYOPATHY; NM

Medium match AUTOSOMAL RECESSIVE LIMB-GIRDLE MUSCULAR DYSTROPHY TYPE 2G


Autosomal recessive limb-girdle muscular dystrophy type 2G (LGMD2G) is a mild subtype of autosomal recessive limb-girdle muscular dystrophy characterized by a variable onset (ranging from infancy to adolescence) of progressive proximal upper and lower limb muscle weakness and atrophy. Mild scapular winging, calf hypertrophy, and lack of respiratory and cardiac involvement are also observed.

AUTOSOMAL RECESSIVE LIMB-GIRDLE MUSCULAR DYSTROPHY TYPE 2G Is also known as lgmd2g|limb-girdle muscular dystrophy due to telethonin deficiency|muscular dystrophy, limb-girdle, type 2g

Related symptoms:

  • Skeletal muscle atrophy
  • Myopathy
  • Elevated serum creatine phosphokinase
  • Difficulty walking
  • Muscular dystrophy


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about AUTOSOMAL RECESSIVE LIMB-GIRDLE MUSCULAR DYSTROPHY TYPE 2G

Medium match PROXIMAL SPINAL MUSCULAR ATROPHY TYPE 3


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.

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

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about PROXIMAL SPINAL MUSCULAR ATROPHY TYPE 3

Medium match AUTOSOMAL RECESSIVE LIMB-GIRDLE MUSCULAR DYSTROPHY TYPE 2B


Autosomal recessive limb-girdle muscular dystrophy type 2B (LGMD2B) is a subtype of autosomal recessive limb-girdle muscular dystrophy characterized by an onset in late adolescence or early adulthood of slowly progressive, proximal weakness and atrophy of shoulder and pelvic girdle muscles. Cardiac and respiratory muscles are not involved. Hypertrophy of the calf muscles and highly elevated serum creatine kinase levels are frequently observed.

AUTOSOMAL RECESSIVE LIMB-GIRDLE MUSCULAR DYSTROPHY TYPE 2B Is also known as lgmd2b|limb-girdle muscular dystrophy due to dysferlin deficiency|muscular dystrophy, limb-girdle, type 3|lgmd3|muscular dystrophy, limb-girdle, type 2b

Related symptoms:

  • Generalized hypotonia
  • Muscle weakness
  • Skeletal muscle atrophy
  • Fatigue
  • Abnormality of the skeletal system


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about AUTOSOMAL RECESSIVE LIMB-GIRDLE MUSCULAR DYSTROPHY TYPE 2B

Medium match AUTOSOMAL RECESSIVE LIMB-GIRDLE MUSCULAR DYSTROPHY TYPE 2Q


Autosomal recessive limb-girdle muscular dystrophy type 2Q (LGMD2Q) is a form of limb-girdle muscular dystrophy characterized by proximal muscle weakness presenting in early childhood (with occasional falls and difficulties in climbing stairs) and a progressive course resulting in loss of ambulation in early adulthood. Muscle atrophy and multiple contractures have also been reported in rare cases.

AUTOSOMAL RECESSIVE LIMB-GIRDLE MUSCULAR DYSTROPHY TYPE 2Q Is also known as muscular dystrophy, limb-girdle, type 2q|lgmd2q|autosomal recessive limb-girdle muscular dystrophy due to plectin deficiency

Related symptoms:

  • Muscle weakness
  • Flexion contracture
  • Motor delay
  • Skeletal muscle atrophy
  • Elevated serum creatine phosphokinase


SOURCES: OMIM ORPHANET MENDELIAN

More info about AUTOSOMAL RECESSIVE LIMB-GIRDLE MUSCULAR DYSTROPHY TYPE 2Q

Top 5 symptoms//phenotypes associated to Skeletal muscle atrophy and Limb-girdle muscular dystrophy

Symptoms // Phenotype % cases
Muscular dystrophy Very Common - Between 80% and 100% cases
Elevated serum creatine phosphokinase Very Common - Between 80% and 100% cases
Muscle weakness Common - Between 50% and 80% cases
Proximal muscle weakness Common - Between 50% and 80% cases
Myopathy Common - Between 50% and 80% cases
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Other less frequent symptoms

Patients with Skeletal muscle atrophy and Limb-girdle muscular dystrophy. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Difficulty climbing stairs Rimmed vacuoles Calf muscle hypertrophy Difficulty walking Motor delay EMG: myopathic abnormalities Distal amyotrophy Limb muscle weakness Lower limb muscle weakness Distal muscle weakness

Rare Symptoms - Less than 30% cases


Difficulty running Deposits immunoreactive to beta-amyloid protein Hyperlordosis Fatigue Increased connective tissue Increased variability in muscle fiber diameter Lumbar hyperlordosis Distal lower limb muscle weakness Gowers sign Areflexia of lower limbs Mildly elevated creatine phosphokinase Skeletal muscle hypertrophy Limb fasciculations Spinal muscular atrophy Falls Flexion contracture Proximal muscle weakness in lower limbs Proximal muscle weakness in upper limbs Proximal upper limb amyotrophy Hyporeflexia Muscle cramps Fasciculations EMG abnormality Congenital muscular dystrophy Muscle fiber splitting Lower limb amyotrophy Hand tremor Progressive proximal muscle weakness Infantile muscular hypotonia Progressive muscle weakness Paralysis Abnormality of the skeletal system Abnormal lower motor neuron morphology Generalized hypotonia Tongue fasciculations Degeneration of anterior horn cells Proximal lower limb amyotrophy Transient myeloproliferative syndrome Distal lower limb amyotrophy Inflammatory myopathy Right bundle branch block Bundle branch block Cognitive impairment Elevated alkaline phosphatase Centrally nucleated skeletal muscle fibers Muscle fiber inclusion bodies Abnormality of the abdominal musculature Myalgia Toe walking Muscle fibrillation Muscle fiber necrosis Decreased/absent ankle reflexes Proximal amyotrophy Decreased Achilles reflex Myopia Generalized amyotrophy Cardiomyopathy Ataxia Gait disturbance Alzheimer disease Myositis Limb-girdle muscle weakness Muscle fiber atrophy Morphological abnormality of the central nervous system Foot dorsiflexor weakness Generalized muscle weakness



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